Research

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Current Research Studies Enrolling Participants

Boston Children’s Neurology researchers conduct a vast array of basic, translational and clinical studies directed at understanding and treating many of the disorders seen in our patient clinics. To participate in some of our studies, you must be under treatment in one of our clinical facilities, but there are many other opportunities for children of all ages to help our researchers and patients by serving as “control subjects”- that is, children who are not suffering from a specific condition - so that information about your health status can be compared to children with the disorder being studied. Click on the links below to learn more about some of our current projects seeking volunteers.

Autism Spectrum Disorder
Brain and Nervous System Tumors
Concussion and Traumatic Brain Injury
Epilepsy and Seizures
Fetal and Neonatal Disorders
Headaches
Multiple Sclerosis and Neuroinflammatory Disorders
Neuromuscular Disease and Spinal Muscular Atrophy
Sleep Disorders
Stroke and Cerebrovascular Disorders
Other Developmental Disorders

Note: studies with limited details and no contact information below are not open for recruitment via this website. For further information about these studies, contact jennifer.worhach@childrens.harvard.edu.

If you would like us to keep you in the loop about upcoming studies in your child(ren)’s age range, please click here to sign up for our Participant Registry.

Autism Spectrum Disorder

Treatment of children with Autism Spectrum Disorders and Epileptiform EEG with Divalproex Sodium 

Overview Researchers at Boston Children's Hospital are investigating if the drug Depakote (divalproex sodium) is able to treat abnormal EEG's without seizures, as well as behavioral and neurological symptoms in children with Autism Spectrum Disorders (ASD).
Who Can Participate?

To participate, children must be between the ages of 4-10, have been diagnosed with ASD and have abnormal EEG's without seizures. 

Participation Details 

Participation in the study lasts about 30 weeks (7 months). In one half of the study the patient will receive the investigational study drug. In the other half, they will receive a placebo. Participation includes 10 visits to the hospital, 3 overnight visits for sleep evaluation and EEGs, and weekly phone calls to monitor progress. Study visits may involve behavioral and neurological testing, physical exams and medical history, and blood draws to monitor study drug. Study medication, either the active drug or placebo will be provided at no cost. 

Study Description  This study is examining if Depakote is effective in treating children who have been diagnosed with ASD and have an abnormal EEG without seizures. Depakote is currently available with a prescription as an anti-seizure medication but is not routinely prescribed to treat abnormal EEGs without seizures. This study will try to determine if administration of Depakote results in improvement in behavior compared to a placebo and if it has an effect on reducing EEG discharges in children with ASD. 

Investigations of Neuroplasticity Mechanisms in Autism Spectrum Disorders 

Overview

The purpose of this study is to investigate brain plasticity in children with Autism Spectrum Disorder (ASD). In this study researchers will measure brain plasticity with transcranial magnetic stimulation (TMS). 
Who Can Participate?

To participate, children must be between the ages of 6-16 and have a diagnosis of ASD. 

Participation Details 

This study involves 4 visits to Boston Children’s Hospital. Participants will be asked to undergo a neurological exam, neuropsychological assessments, behavioral tasks, and TMS. 

Study Description 

Brain plasticity is the brain’s ability to change and learn through experience. Research suggests that during development the brains of individuals with ASD may change in response to their experiences differently than the brains of typically developing individuals. This research will help to understand why and how this difference may contribute to the symptoms of ASD.

Specifically this study will measure brain plasticity with TMS, a way to noninvasively activate specific brain areas through the scalp that has been used for years in neurology and psychiatry.           

Research Contact Ryan Hodgeman at Ryan.Hodgeman@childrens.harvard.edu 

Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations

Overview


The purpose of this study is to learn more about the symptoms and characteristics of people with Autism Spectrum Disorders (ASD) and PTEN mutations with the goal of gaining more information about risk management and to identify biomarkers (symptoms or characteristics of a disease at a certain stage) for intervention studies. 
Who Can Participate? Individuals 3-21 with a diagnosis of PTEN, PTEN and ASD, or ASD and Macrocephaly are eligible to participate. The primary language of the participating family must be English. 
Participation Details  Participation in this study requires 3 onsite visits over 2 years. Two additional visits will take place over the phone at the 6 month intervals between yearly onsite visits. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions and neuropsychological assessments and a blood draw done for laboratory studies. 
Study Description Autism Spectrum Disorders are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. PTEN is a gene which, when mutated, can cause tumors or growths in the body. Studies in the past suggest that there is a link between ASD and PTEN gene mutations.                                               

This study is aimed at learning more information about phenotypic characteristics of ASD and PTEN. Researchers hope to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD that may serve as treatment targets
Research Contact
Meghan Dean at Meghan.Dean@childrens.harvard.edu or 617-919-3499.

Autism Spectrum Disorder and Intellectual Disability Determinants in Tuberous Sclerosis Complex


Overview
Researchers at Boston Children’s Hospital are currently conducting a clinical research study for individuals between the ages of 3-21 years with a diagnosis of Tuberous Sclerosis Complex (TSC) and Autism Spectrum Disorder (ASD) and/or intellectual disability (ID). The goal of this study is to find earlier signs of autism and ID and gain a better understanding of ASD/ID in individuals with TSC so that effective treatments and interventions for ASD/ID can be found. 
Who Can Participate? Individuals 3-21 with a diagnosis of TSC and confirmed/ suspected ASD and/or ID are eligible to participate. The primary language of the participating family must be English, and one biological parent must be willing to provide a blood sample. Individuals who have a history of systemic mTOR inhibitor usage or major brain trauma or surgery are not eligible to participate.
Participation Details
The study involves five visits over a two year period. Three of the visits occur on-site at Boston Children’s Hospital. The other two visits occur as phone calls. The on-site visits include blood draws, physical/neurological exams and behavior testing.
Study Description
This study focuses on the genetic disorder TSC as a model for ASD. Tuberous Sclerosis is a multi-system disease that can present in many different ways both among and within families. People with TSC have a higher chance of getting ASD, also called autism, as well as ID. The purpose of this research study is to learn more information about ASD/ID in individuals with TSC through neurobehavioral assessments and magnetic resonance imaging (MRI) so that new and effective treatments and interventions for ASD/ID can be discovered.

This study is taking place at 5 institutions throughout the country: Boston Children's Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of Texas at Houston and University of California at Los Angeles.
Research Contact
 Meghan Dean at Meghan.Dean@childrens.harvard.edu or 617-919-3499.


Longitudinal Study to Identify Early Biomarkers of ASD in Infants with TSC 

Overview

The purpose of this research study is to look for early signs of Autism Spectrum Disorder (ASD) in infants with Tuberous Sclerosis Complex (TSC), a genetic disorder where ASD is common. 
Who Can Participate? Infants ages 3 to 12 months who are diagnosed with TSC may be eligible to participate. 
Participation Details  Participation in this study requires about 5-7 visits to Boston Children’s Hospital depending on the age of the participant at enrollment. Study visits primarily consist of EEGs, neuropsychological testing, and a physical and neurological exam, as well as an MRI when clinically indicated. Visits are usually scheduled over a few days. Some travel reimbursement is available. 
Study Description Children with TSC have a higher chance of getting ASD. Autism is usually diagnosed in children who are older than 18 months old. We want to see if we can find earlier signs of ASD. To do this, we will be using tests (MRI and EEG) to look at your child’s brain. We will also use tests and questionnaires to look at how your child is behaving. The study is investigating whether these biomarkers can identify TSC patients at highest risk for ASD during early development, providing a window for intervention in the future.
Research Contact Rachel Gerhardt at Rachel.Gerhardt@childrens.harvard.edu or 617-919-4599.

MRI Biomarkers of Patients with Tuberous Sclerosis Complex and Autism

Overview


The purpose of this study is to better understand what TSC and ASD “look like” on imaging, specifically, magnetic resonance imaging (MRI). Using MRI images of your child’s brain, we hope to learn how to identify earlier signs of autism by studying the white matter or wiring in the brain. Early diagnosis of autism in both TSC and ASD patients is expected to lead to more optimal therapies and better plans-of-care for children. 
Who Can Participate? Patients TSC and/or ASD between the ages of 3-18. We are also interested in recruiting healthy controls that do not have ASD or TSC. 
Participation Details  Participants will be given tests (neuropsychological testing) to assess their brain function and development, and will also have MRI scans. There will be a testing session and scan after enrollment, and then a test and scan once a year over the next four years. 
Study Description During testing sessions, participants and their parents or legal guardians will answer questions meant to assess study subjects' language, learning, and social skills, as well as overall intellectual ability. Testing will last between 3-4 hours. During MRI sessions, participants will be asked to lie in the scanner while we take pictures of their brain. An MRI session will last for up to one hour. Compensation will be $50 for each testing session and $100 for each MRI session. 
          
Early diagnosis of TSC and of ASD enables early interventions that can improve outcomes for most affected children. We believe this study will contribute to understanding the brain changes that lead to autism and open up new avenues for more promising therapies.                                         
Research Contact   Rachel Gerhardt at Rachel.Gerhardt@childrens.harvard.edu or 617-919-4599 or Anna Prohl at Anna.Prohl@childrens.harvard.edu.
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Autism Spectrum Disorder

Treatment of children with Autism Spectrum Disorders and Epileptiform EEG with Divalproex Sodium

Brief Description  Researchers at Boston Children’s Hospital are investigating if the drug Depakote (divalproex sodium) is able to treat abnormal EEG’s without seizures, as well as behavioral and neurological symptoms in children with Autism Spectrum Disorders (ASD). 
Eligibility for Study Participation  To participate, children must be between the ages of 4-10, have been diagnosed with ASD and have abnormal EEG’s without seizures. 
Participation Details  Participation in the study lasts about 30 weeks (7 months). In one half of the study the patient will receive the investigational study drug. In the other half, they will receive a placebo. Participation includes 10 visits to the hospital, 3 overnight visits for sleep evaluation and EEGs, and weekly phone calls to monitor progress. Study visits may involve behavioral and neurological testing, physical exams and medical history, and blood draws to monitor study drug. Study medication, either the active drug or placebo will be provided at no cost.  
Full Description  This study is examining if Depakote is effective in treating children who have been diagnosed with ASD and have an abnormal EEG without seizures. Depakote is currently available with a prescription as an anti-seizure medication but is not routinely prescribed to treat abnormal EEGs without seizures. This study will try to determine if administration of Depakote results in improvement in behavior compared to a placebo and if it has an effect on reducing EEG discharges in children with ASD. 

Investigations of Neuroplasticity Mechanisms in Autism Spectrum Disorders































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Brief Description  The purpose of this study is to investigate brain plasticity in children with Autism Spectrum Disorder (ASD). In this study researchers will measure brain plasticity with transcranial magnetic stimulation (TMS). 
Eligibility for Study Participation  To participate, children must be between the ages of 6-16 and have a diagnosis of ASD. 
Participation Details  This study involves 4 visits to Boston Children’s Hospital. Participants will be asked to undergo a neurological exam, neuropsychological assessments, behavioral tasks, and TMS.































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Research Contact  Ryan Hodgeman at Ryan.Hodgeman@childrens.harvard.edu 
Full Description  Brain plasticity is the brain’s ability to change and learn through experience. Research suggests that during development the brains of individuals with ASD may change in response to their experiences differently than the brains of typically developing individuals. This research will help to understand why and how this difference may contribute to the symptoms of ASD.































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Specifically this study will measure brain plasticity with TMS, a way to noninvasively activate specific brain areas through the scalp that has been used for years in neurology and psychiatry. 

Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations 

Brief Description  The purpose of this study is to learn more about the symptoms and characteristics of people with autism spectrum disorders (ASD) and PTEN mutations with the goal of gaining more information about risk management and to identify biomarkers (symptoms or characteristics of a disease at a certain stage) for intervention studies. 
Eligibility for Study Participation  Individuals 3-21 with a diagnosis of PTEN, PTEN and ASD, or ASD and Macrocephaly are eligible to participate. The primary language of the participating family must be English. 
Participation Details  Participation in this study requires 3 onsite visits over 2 years. Two additional visits will take place over the phone at the 6 month intervals between yearly onsite visits. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions and neuropsychological assessments and a blood draw done for laboratory studies. 
Research Contact  Meghan Dean at Meghan.Dean@childrens.harvard.edu or 617-919-3499 
Full Description  Autism spectrum disorders are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. PTEN is a gene which, when mutated, can cause tumors or growths in the body. Studies in the past suggest that there is a link between ASD and PTEN gene mutations. 































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































This study is aimed at learning more information about phenotypic characteristics of ASD and PTEN. Researchers hope to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD that may serve as treatment targets. 

Longitudinal Study to Identify Early Biomarkers of ASD in Infants with TSC

Brief Description  The purpose of this research study is to look for early signs of Autism Spectrum Disorder (ASD) in infants with Tuberous Sclerosis Complex (TSC), a genetic disorder where ASD is common. 
Eligibility for Study Participation  Infants ages 3 to 12 months who are diagnosed with TSC may be eligible to participate. 
Participation Details  Participation in this study requires about 5-7 visits to Boston Children’s Hospital depending on the age of the participant at enrollment. Study visits primarily consist of EEGs, neuropsychological testing, and a physical and neurological exam, as well as an MRI when clinically indicated. Visits are usually scheduled over a few days. Some travel reimbursement is available. 
Research Contact Rachel Gerhardt at Rachel.Gerhardt@childrens.harvard.edu or 617-919-4599. 
Full Description  Children with TSC have a higher chance of getting ASD. Autism is usually diagnosed in children who are older than 18 months old. We want to see if we can find earlier signs of autism. To do this, we will be using tests (MRI and EEG) to look at your child’s brain. We will also use tests and questionnaires to look at how your child is behaving. The study is investigating whether these biomarkers can identify TSC patients at highest risk for autism during early development, providing a window for intervention in the future. 

MRI Biomarkers of Patients with Tuberous Sclerosis Complex and Autism

Brief Description  The purpose of this study is to better understand what TSC and ASD “look like” on imaging, specifically, magnetic resonance imaging (MRI). Using MRI images of your child’s brain, we hope to learn how to identify earlier signs of autism by studying the white matter or wiring in the brain. Early diagnosis of autism in both TSC and ASD patients is expected to lead to more optimal therapies and better plans-of-care for children. 
Eligibility for Study Participation  Patients TSC and/or ASD between the ages of 3-18. We are also interested in recruiting healthy controls that do not have ASD or TSC. 
Participation Details  Participants will be given tests (neuropsychological testing) to assess their brain function and development, and will also have MRI scans. There will be a testing session and scan after enrollment, and then a test and scan once a year over the next four years. 
Research Contact  Rachel Gerhardt at Rachel.Gerhardt@childrens.harvard.edu or 617-919-4599 or Anna Prohl at Anna.Prohl@childrens.harvard.edu































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Full Description  During testing sessions, participants and their parents or legal guardians will answer questions meant to assess study subjects' language, learning, and social skills, as well as overall intellectual ability. Testing will last between 3-4 hours. During MRI sessions, participants will be asked to lie in the scanner while we take pictures of their brain. An MRI session will last for up to one hour. Compensation will be $50 for each testing session and $100 for each MRI session. 































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Early diagnosis of TSC and of ASD enables early interventions that can improve outcomes for most affected children. We believe this study will contribute to understanding the brain changes that lead to autism and open up new avenues for more promising therapies. 































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Concussion and Traumatic Brain Injury

Multiple Medical Therapies for Pediatric Traumatic Brain Injury: A Comparative Effectiveness Approach

Study Description Investigators at Boston Children’s Hospital (Robert Tasker and Kerri LaRovere) have partnered with Dr. Michael Bell at the University of Pittsburgh and investigators at other institutions throughout the world to conduct an observational cohort study of 1000 children with severe traumatic brain injury (TBI) to compare the effectiveness of several pediatric TBI therapies. Working as part of an international consortium from the US, UK and EU, Drs. Tasker and LaRovere are looking at multiple types of TBI therapies including intracranial hypertension strategies, including cerebrospinal fluid diversion and hyperosmolar therapies; secondary insult detection, including prophylactic hyperventilation and brain tissue oxygen monitoring (PbO2); and metabolic support, including nutritional support and glucose management. This project may provide compelling evidence to change clinical practices, provide evidence for several new recommendations for future guidelines and lead to improved research protocols that would be limit variability and increase the effectiveness of treatment strategies for traumatic brain injuries.  

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Epilepsy and Seizures

Genetics of Epilepsy and Related Disorders


Overview


This is an observational study that aims to better understand the genetic underpinnings contributing to epilepsy and related disorders. We do this through a method of genetic testing called whole exome sequencing (WES), which analyzes DNA variations found in the 20,000 genes that make up our protein-coding genetic material. 

Who Can Participate?

We are enrolling individuals with early onset epilepsies and, when possible, both parents.
                                   
We have ongoing research efforts involving epilepsy syndromes including: Ohtahara Syndrome, Infantile Spasms, Doose Syndrome, Early Myoclonic Epilepsy, Early Infantile Epileptic Encephalopathy, Early Onset Epileptic Encephalopathy, Febrile Infection-Related Epilepsy Syndrome (FIRES), and Epilepsy of Infancy with Migrating Focal Seizures, as well as epilepsy-associated genes including: SCN1A, SCN2A, SCN8A, KCNQ2, PCDH19, PRRT2, DEPDC5, KCNT1, and more.          

Participation Details 

Participation in this study includes reviewing consent materials with a member of the study staff, providing DNA samples in the form of saliva or blood for DNA sequencing, and completion of an epilepsy history questionnaire. All enrollment and participation steps can be completed remotely and do not require visits to Boston Children’s Hospital. 

Research Contact 

McKenna Kelly at epilepsygenetics@childrens.harvard.edu or 617-355-5254.


TriVox Health Epilepsy Module

Study Description

TriVox Health is a web-based patient management and monitoring system designed to track patients’ disease symptoms and response to therapy over time. TriVox enables clinics to use electronic surveys to gather data remotely from multiple responders, including patients, parents/guardians, school personnel and ancillary providers, and view the responses in a timely manner via graphical, tabular, and narrative summary formats. This quality improvement (QI) initiative will implement TriVox Health as the standard of care for all patients who receive care for ADHD, asthma, autism, depression, and epilepsy within the following ambulatory specialties: Adolescent Medicine, Allergy-Immunology, CHPCC, Developmental Medicine, Neurology, Psychiatry, and Pulmonary. Patients and families will use TriVox Health to report on patient health status (as defined by each disease module) as soon as they are enrolled into the system, and will complete clinically-relevant questionnaires at routine intervals. Providers will use the information collected through TriVox Health to inform their clinical care of the patient/family.

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Fetal and Neonatal Disorders

Fetal Brain Development and Connectivity in Congenital Heart Disease

Study Description 

The purpose of this research is to study brain development in babies prenatally diagnosed with congenital heart disease during pregnancy and to learn how heart disease affects brain development, using magnetic resonance imaging (MRI). Prior research has shown that babies with congenital heart disease may have reduced brain growth and maturation during the later parts of pregnancy. This study will investigate possible causes of these changes that may happen earlier in pregnancy. 
           
We are seeking pregnant women to participate in this research study, either as control subjects (if there have been no signs of a problem during the pregnancy) or as study subjects (if congenital heart disease has been diagnosed before birth). Participating mothers will have one fetal MRI in the middle part of the pregnancy and a second fetal MRI towards the end of the pregnancy. Following delivery, a brain MRI scan of the baby will be performed during the first month of life and a second MRI will be performed at 3-6 months of age. At the same time as the 3-6 month MRI, we will also perform a developmental evaluation of the baby.  


Neurodevelopment in Congenital Heart Disease 

Study Description  Researchers at Boston Children's Hospital are conducting a study to better understand the relationship between fetal brain MRI and children’s development and behavior as they grow up. To continue to understand how neurodevelopment is affected in babies with congenital heart disease researchers will follow up on babies who had MRIs during pregnancy. The goal is to learn more about whether a brain MRI during pregnancy can identify children with congenital heart disease who are more likely to have difficulties in language, motor, cognitive, and social development. This study consists of a single study visit where a child will compete testing similar to play activity with a developmental psychologist. 

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Headaches

Migraine Evolution: Evaluation of Pediatric Migraines using Multimodal Magnetic Resonance Imaging

Overview  The goal of this research study is to examine brain changes associated with migraine in kids, adolescents and young adults. 
Who Can Participate? Participants will be eligible if they are between the ages of 7-26 year old with migraine. Healthy 7-26 year old individuals are also eligible to participate in the control group of the study.
Participation Details  The study is comprised of 4 parts and will take approximately 3 hours: 1) A short neurological evaluation by the study physician (~15 minutes), 2) completing questionnaires (~1 hour), 3) a temperature sensitivity test (~15 minutes) and 4) an MRI (~1 hour). Participants will receive a $100 (if under 18 years of age) or $120 (if over 18) gift card for their participation. All participants will also receive a picture of their brain from the MRI scan. 
Study Description  This study will use Magnetic Resonance Imaging (MRI) to measure changes in brain structure, connectivity, and blood flow in patients with migraines. The successful outcome of the study may provide critical understanding of how migraine may affect normal brain development over the formative years of a person’s life. Studying the migraine brain during the critical transitional period from child to adult may lead to new measures for the prognosis of the condition and identify new treatment targets in the early stages of migraine. 

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Multiple Sclerosis and Neuroinflammatory Disorders

Environmental and Genetic Risk Factors for Pediatric Multiple Sclerosis

Overview



Multiple sclerosis (MS) is a chronic neurological condition that affects approximately 400,000 individuals in the United States, including up to 20,000 children, and is the leading cause of non-traumatic neurological disability in young adults. MS affects the brain and spinal cord of patients who may develop difficulty walking or seeing as a result of the disease. The purpose of this study is to investigate if genes or environmental exposures or a combination of both put children and adolescents at risk for getting MS. 
Who Can Participate? Children are eligible for this study as cases if they are 21 years or younger, have been diagnosed with MS, and their first demyelinating attack started less than 4 years prior to enrollment and was before 18 years of age.
           
Children are eligible for this study as controls if they are 21 years or younger and do NOT have any of the following: neurological illness (ADHD or migraines is OK), prior organ transplant, siblings or parents with MS, and no autoimmune disease other than asthma or eczema. Only one biological sibling per family can be enrolled. 
Participation Details  Participants will have blood drawn, and answer a food frequency questionnaire, their parents will complete an extensive environmental questionnaire. 
Research Contact  Susana Camposano at Susana.camposano@childrens.harvard.edu or 857-218-4652. 

Microbiomes in Pediatric Multiple Sclerosis

Study Description  This study includes a subset of subjects who are enrolled in the ongoing study of risk factors in pediatric MS. The primary objective of this study is to understand how commensal bacteria are associated with MS. The study looks at differences in gut microbiome between MS cases and controls, whether certain early exposures predict the characteristics of the gut microbiome, and explores the association between microbiome characteristics and concomitant MS treatment. Nasal, oropharyngeal samples are collected at BCH, stool samples are collected at home and shipped to the lab.

Pediatric Multiple Sclerosis and other Demyelinating Diseases Database 


Study Description  The Pediatric Multiple Sclerosis and other Demyelinating Diseases Database is a database shared by the Network of Pediatric Multiple Sclerosis Centers (NPMSC) that hosts data about patients with suspected onset of demyelinating disease of the central nervous system prior to age 18 years.
                                              
The objectives are to describe the number and characteristics of patients with suspected early onset of demyelinating disease, and to provide this data to NPMSC investigators to support hypothesis generation and study design development for clinical trials and observational studies to be carried out by the NPMSC. 

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Neuromuscular Disease and Spinal Muscular Atrophy

Deflazacort EAP - An open label, expanded access protocol intended to provide treatment with MP-104 (deflazacort) to U.S. children, adolescents, and/or adults with Duchenne Muscular Dystrophy

Study Description  Deflazacort is an investigational medication that has not yet been approved by the Food and Drug Administration for treating Duchenne Muscular Dystrophy (DMD). This program will allow for children, adolescents, and adult patients with DMD in the U.S. who are ineligible, unable, or otherwise unwilling to enroll in a clinical study to be able to receive deflazacort treatment. 

Duchenne muscular dystrophy: double-blind randomized trial to find optimum steroid regimen (FOR-DMD)

Study Description  Steroid therapy is now a standard treatment for children affected by Duchenne Muscular Dystrophy (DMD). The FOR-DMD study will compare three ways of giving steroid treatment to boys with DMD to determine which of the three ways increases muscle strength the most, and which causes the fewest side effects. The steroids that will be used in this study are prednisone and deflazacort. The results of this study will have a direct impact on the current and future management of boys with DMD throughout the world.


Sarepta PROMOVI 4658-301- An Open-Label, Multi-Center, 48-Week Study with a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy 

Study Description  The purpose of this research study is to evaluate the efficacy and safety of eteplirsen in patients with Duchenne Muscular Dystrophy (DMD). This study will test whether eteplirsen works to improve muscle function in boys with DMD who have genetic deletions that may be corrected by exon-skipping the gene called exon 51. Eligible participants are males diagnosed with DMD between 7 to 16 years of age who are currently taking corticosteroids. Participants must also be able to walk a distance of greater than or equal to 300m during the study’s Screening period. 

Ionis (ISIS) CS3b: A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients with Infantile-onset Spinal Muscular Atrophy

Study Description  The purpose of this study is to see whether a drug called ISIS 396443 has any effects (good or bad) on infants with Spinal Muscular Atrophy (SMA). This study will test the clinical efficacy, safety and tolerability of multiple doses of ISIS 396443 administered as intrathecal injections. The symptoms of SMA occur when the SMN protein is missing in the spinal cord. In animal studies, the ISIS 396443 drug has shown to increase the amount of SMN protein in the spinal cord, and there were positive effects in the animals’ movement and how long they lived. 


Prospective, Longitudinal Study of the Natural History and Functional Status of Patients with Myotubular Myopathy (MTM)

Study Description  This is a multi-center, international study. Eight institutions across North America and two in Europe have partnered to focus on research for Myotubular Myopathy (MTM). The purpose of this study is to characterize the disease course in patients with MTM and to determine the best outcome for future treatments. Eligible participants for this study will have genetically diagnosed MTM. Participants may be of any age, including newborns. 

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Sleep Disorders

Improving Narcolepsy Awareness and Screening in Schools

Overview  This study aims to develop a screening tool school nurses and teachers could use to identify symptoms of narcolepsy in the academic setting.  
Who Can Participate? Children between 6-18 years of age who have no significant uncontrolled illness, no untreated sleep disorders, psychiatric condition or neurodevelopmental condition (Including ASD and/or ADHD). 
Participation Details  Control subjects will be asked to fill out a questionnaire describing sleep habits, normal bed and wake times, and if applicable nap schedule. Subjects will also be asked to refer 1-2 teachers and a school nurse who would be willing to fill out the developed screening tool as it applies to the participant. Each participant who completes the questionnaire will receive a $15.00 ClinCard as a thank you for participation.
Study Description  Narcolepsy is a rare disorder that tends to occur most frequently during childhood and adolescence. It can often take 3-10 years from symptom onset to time of diagnosis and this delay can result in numerous academic, occupational, and social challenges during a crucial period of personal development. Since the most common time for symptoms to develop is during school age school- based professionals are in a unique position to witness concerning symptoms and signs of narcolepsy. The purpose of this study is to develop a screening tool to be used by teachers and school nurses to evaluate children for possible narcolepsy symptoms and referral to a sleep physician. This tool would help improve awareness of narcolepsy symptoms and reduce the time to diagnosis.
Research Contact    Erin Steinhart at Erin.Steinhart@childrens.harvard.edu 

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Stroke and Cerebrovascular Disorders

International Pediatric Stroke Study

Study Description This study initiated in 2003 is run by the International Pediatric Stroke Study (IPSS), a network of many centers interested in childhood stroke. The network has grown to over 149 co-investigators at 91 centers spanning 22 countries. Dr. Michael Rivkin, director of the Cerebrovascular Disorders and Stroke program is the principal investigator at Children’s Hospital Boston. The purpose of this research study is to learn more about childhood stroke (sudden blockage of blood flow to part of the brain). Stroke is uncommon in children compared to adults, and it is not well understood. Researchers want to develop as clear an understanding of stroke in children as possible. By pooling information about childhood stroke with children from other countries, researchers hope to obtain a clearer picture of stroke in children and answer important questions about the kinds of stroke, the reasons for stroke, and the treatments for children with stroke. 

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Other Developmental Disorders

CDKL5 Clinic Study 

Overview  The purpose of the CDKL5 Clinic Study is to improve our understanding of the neurologic and non-neurologic aspects of the neurodevelopmental disorder associated with mutations in the CDKL5 gene and how this disorder evolves over time. 
           
Our aim is to combine the database of information collected at BCH with databases from the other CDKL5 Centers for Excellence in order to compile as much information as possible about the disorder and evaluate for genotype-phenotype correlations. This platform of information is essential to the development of clinical treatment trials going forward. 
Who Can Participate? Participants in the CDKL5 Clinic Study will be offered enrollment through our clinic at Boston Children’s Hospital. Determination of CDKL5 mutation status is required in order to be eligible for enrollment, and we can assist with interpretation of genetic test results in clinic. 
Participation Details  We will gather retrospective and prospective medical information through medical record review, family report, physical examinations, and clinical data. All information will be collected during clinic visits, and supplemental data from your home medical team will be collected if appropriate. Copies of MRI and EEG data will be requested if done elsewhere. Data will be collected on an ongoing basis for patients who are seen regularly in clinic, and for all enrolled subjects, we will ask for updates on at least a yearly basis.
Research Contact  The CDKL5 research studies being offered at Boston Children’s Hospital are optional for all patients seen in the CDKL5 clinic and are not required for clinical care. If you have questions about participating in our CDKL5 research studies, please contact the study coordinators at 617-355-5230 or by email at CDKL5@childrens.harvard.edu. Additional translational studies may be available soon. Please ask our team. 


Mapping the Genotype, Phenotype and Natural History of Phelan-McDermid Syndrome

Overview Researchers at Boston Children’s Hospital are enrolling individuals between the ages of 3 and 21 years old with Phelan-McDermid Syndrome (PMS) for a new study. The goal of this study is to gain a better understanding of PMS to identify early markers and ultimately effective interventions for autism spectrum disorder. 
Who Can Participate? English speaking individuals between the ages of 3 and 21 years are eligible to participate if they have been diagnosed with PMS. 
Participation Details  The study involves 5 visits over a 2 year period. Three of the visits occur on-site at Boston Children's Hospital. The other two visits occur as phone calls. The on-site visits include a blood draw, physical/neurological exams and behavioral testing. 
Study Description

Phelan-McDermid syndrome is a very rare genetic condition that is caused by a loss of one copy of the SHANK3 gene. It is characterized by global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, and autism spectrum disorder. The goal of this study is to understand more about PMS and the biological pathways associated with intellectual disability and autism spectrum disorder in the disorder, and to establish the foundation for future research studies in PMS and in other ID/ASD-associated disorders. This study will track how PMS develops and progresses over time using repeated measurements over time, as well as identify genetic factors which contribute to the many different symptoms that individuals PMS experience.

This study is taking place at 4 institutions throughout the country: Boston Children's Hospital, Icahn School of Medicine at Mount Sinai, Rush University Medical Center and the National Institute.

Research Contact    Meghan Dean at Meghan.Dean@c


Genetics of Tuberous Sclerosis Complex (TSC) and Related Neuro-developmental Disorders


Overview The purpose of this research study is to understand the genetic and other factors, which may contribute to the large spectrum of neuro-developmental abnormalities (such as autism, cognitive impairment, and seizures) related to TSC. These factors may help to explain the broad outcome seen in affected families. 
Who Can Participate? Anyone with a diagnosis of TSC or a related neuro-developmental disorder is eligible to participate in the study, as well as family members of affected individuals.
Participation Details  This study involves a one-time visit to Boston Children’s Hospital. Participants will be asked to provide either a blood or saliva sample to be used for genetic and protein studies. Researchers will also have access to the medical records of enrolled participants. 


Investigating the Cellular Basis of Neurological Disorders

Overview This study aims to better understand the genetic, biological, and other factors that may contribute to the development of neurological conditions and that may explain the broad health outcomes of such disorders. 
Who Can Participate? All patients with a neurological disorder are eligible to participate, as well as family members of the affected individual.
Participation Details  Participants are asked to provide either a blood or skin sample that will be used to create iPSC cell lines, and to isolate DNA and RNA to examine gene expression. Enrolling in the study also allows researchers to view participant’s medical records and health information.


Natural History of Sturge-Weber Syndrome

Study Description  The goal of this study is to develop a database of information from individuals with Sturge-Weber syndrome (SWS). We hope that from the information collected in the database, researchers can gain a better understanding of the development of the disease, improve the clinical care of individuals with SWS, and direct future research studies. Individuals with a possible or definite diagnosis of SWS who are seen in the neurology clinic are eligible to participate in this study. 


MRI Biomarkers in Patients with Sturge Weber Syndrome 

Study Description  This study aims to learn more about brain changes that take place in individuals with Sturge-Weber syndrome (SWS). The study uses imaging techniques, such as MRI scans, to understand how to identify early signs of SWS. Early brain imaging results have the potential to provide a more accurate prognosis as well as lead to a better understanding of neurological symptoms and responses to therapies. Individuals between the ages of 1 and 4 years old (inclusive) with a port-wine stain and/or SWS seen in the neurology clinic are eligible to participate in this study. 


Sensory Event Related Potentials in Children with Tuberous Sclerosis

Overview We are currently conducting a clinical research study at Boston Children’s Hospital for individuals between the ages of 6 and 14 years with a diagnosis of tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD). The goal of this study is to help researchers gain a better understanding of the association of EEG signals and with TSC and ASD for the development biomarkers that can be used for the evaluation of novel treatments. 
Who Can Participate? Eligible participants must either have a diagnosis of TSC (and also Autism Spectrum Disorder preferably) and be between the ages of 6 and 14, or be typically developing and between the ages of 6 and 14.
Participation Details  Participating in this study involves only one visit to the hospital. The study visit will involve an EEG session that lasts approximately two hours.

Tuberous Sclerosis Complex (TSC) Natural History Database Project

Overview The aim of the project is to establish a central repository of information about a large number of individuals with TSC during the course of their lifetime. Boston Children’s Hospital is one of many hospitals across the country that is part of the Tuberous Sclerosis Alliance.
Who Can Participate? The only eligibility requirement for this study is a diagnosis of Tuberous Sclerosis Complex.
Participation Details  Participating in this study allows researchers to pull data from participant’s medical records and enter it in a database. No identifying information will be recorded in the database. 

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