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
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
Investigations of Neuroplasticity Mechanisms in Autism Spectrum Disorders
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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. |
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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. |
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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. |
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Research Contact Mary Ryan at Mary.Ryan@childrens.harvard.edu |
Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations
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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. |
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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. |
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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. |
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Research Contact Sarah Mischianti at Sarah.Mischianti@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. |
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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. |
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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. |
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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. |
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Research Contact Sarah Mischianti at Sarah.Mischianti@childrens.harvard.edu or 617-919-3499. |
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
Epilepsy and Seizures
Genetics of Epilepsy and Related Disorders
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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. |
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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. |
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Research Contact Meredith Park at Meredith.Park@childrens.harvard.edu or 617-355-5254. |
TriVox Health Epilepsy Module
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. |
Fetal and Neonatal Disorders
Fetal Brain Development and Connectivity in Congenital Heart Disease
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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. |
Neurodevelopment in Congenital Heart Disease
Neuromuscular Disease and Spinal Muscular Atrophy
Duchenne muscular dystrophy: double-blind randomized trial to find optimum steroid regimen (FOR-DMD)
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
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. |
Sleep Disorders
Improving Screening for Pediatric Sleepiness
Overview The diagnosis of pediatric narcolepsy is often not made until 5-10 years after symptoms develop! This delay in diagnosis can lead to difficulties maintaining a social life, safety issues, academic struggles and mood disorders. We have developed a screening survey to help identify children/adolescents with excessive daytime sleepiness. |
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Who Can Participate? We are looking for patients age 8-18 who have been recently diagnosed with narcolepsy or idiopathic hypersomnia (within a 6 month period) or awaiting diagnostic sleep study testing for these conditions to complete our surveys. Additionally, we are looking for control participants (healthy kids/adolescents age 8-18 with no sleep disorders or medical conditions) to take these surveys. |
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Participation Details Complete 5 questionnaires online about typical sleep patterns and daytime sleepiness. This takes about 15 minutes in total. As a thank you, each participant will receive a $10 gift card. |
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Research Contact Erin Steinhart at Erin.Steinhart@childrens.harvard.edu |
Understanding the Cognitive and Cardiovascular Effects of Narcolepsy
Overview Research has shown that sleep disturbances can contribute to both cognitive problems and hypertension. We are studying the effects of sleep fragmentation on cognitive and cardiovascular outcomes in kids/adolescents with narcolepsy and healthy controls. |
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Who Can Participate? We are looking for children ages 8-18 years of age who are diagnosed with narcolepsy type 1, as well as healthy control participants with no sleep or medical disorders. |
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Participation Details This study requires 2 sessions of IQ testing (one at home through Skype and one in- person), wearing a wrist watch device for 1 week including on the study night to measure sleep/wake and autonomic activity, completion of online questionnaires, an overnight sleep study at Boston Children’s Hospital, memory and emotion tests before and after the sleep study, and blood pressure monitoring before/after the study. Last, a single blood draw is required upon awakening in the morning. As a thank you, the participant receives $250.00. |
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Research Contact Jennifer Worhach at Jennifer.Worhach@childrens.harvard.edu |
Stroke and Cerebrovascular Disorders
International Pediatric Stroke Study
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. |
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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. |
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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. |
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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. |
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. |
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Who Can Participate? All patients with a neurological disorder are eligible to participate, as well as family members of the affected individual. |
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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
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
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. |
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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. |
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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. |
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Who Can Participate? The only eligibility requirement for this study is a diagnosis of Tuberous Sclerosis Complex. |
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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. |