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Research Snapshot | Overview

The Neurology Department provides staff support to help residents in their research development, including preparing research proposals and study designs, and reviewing case reports and publications. Additionally, the Boston Children’s Hospital Clinical Research Program aids residents with grants, study protocols, case report forms, surveys, research databases, data or project management, data analysis, and education in clinical research methods and practice.

Basic and Translational Research: A snapshot

Todd Anthony, PhD
Genetic dissection of neural circuits that control stress-induced behavioral states

Larry Benowitz, PhD
Optic nerve regeneration and CNS reorganization after injury

Chinfei Chen, MD, PhD
Synaptic plasticity

Michael Crickmore, PhD
Neurobiology of motivational states

Michael Do, PhD
Regulation of physiology and behavior by light

Elizabeth Engle, MD
Congenital eye movement disorders

Michela Fagiolini, MD
Experience-dependent visual plasticity, neurodevelopmental disorders, including Rett syndrom

Gwenaelle Geleoc, PhD
Functional development of sensor hair cells in the inner ear

Xi He, PhD
Cell-cell communication; early nervous system development, Wnt family of secreted morphogens and signaling; cancer, skeletal and neurologic diseases

Zhigang He, PhD, BM
Axon regeneration

Takao Hensch, PhD
Critical periods in brain development

Jeffrey Holt, PhD
Molecular basis of sensory signals in hearing and deafness

Karl Koehler, PhD
Development and regeneration of peripheral sensory systems

Gabriel Kreiman, PhD, MSc
Computations in the brain and the functional architecture of neuronal circuits

Wei-Chung Allen Lee, PhD
understanding the organizational principles that underlie information processing in neural circuits through the application of ‘functional connectomics’ to discover the relationship between circuit structure and function in the Drosophila and rodent brain.

Jonathan Lipton, MD, PhD
Circadian rhythms, neurological disease, translation

Annapurna Poduri, MD
Epilepsy genetics

Scott Pomeroy, MD, PhD
Molecular and cellular biology of brain tumors

Paul Rosenberg, MD, PhD
Physiology and pathophysiology of glutamate transporters in the central nervous system; molecular mechanisms of brain injury; mechanisms of homeostatic sleep regulation

Alexander Rotenberg, MD, PhD
Noninvasive brain stimulation; epilepsy; traumatic brain injury

Mustafa Sahin, MD, PhD
Neuronal wiring and neurological disease

Thomas Schwarz, PhD
Neurotransmitter secretion, membrane trafficking, synapse development, axonal transport, Parkinson’s disease

Judith Steen, PhD
Neurodegenerative diseases, proteomics and bioinformatics

Beth Stevens, PhD
Neuron-glia signaling, synapse development, plasticity

Xin Tang, PhD (Joining in January 2021)
Understanding brain function and dysfunction from model to mechanism to medicine

Hisashi Umemori, MD, PhD
Wiring the functional brain

Clifford Woolf, MB, BCh, PhD
Pain, formation of neural circuits, regeneration

Clinical Research: A sampling of current studies

Boston Children’s is a focal point for neurology research. We are a member site in two NIH consortia for clinical trials, NeuroNEXT and NIH StrokeNet. Below is just a selection of some of our other ongoing clinical research studies.

Genetics of severe early onset epilepsies
This long-term study, led by Annapurna Poduri, MD, seeks to identify genetic alterations that cause severe early-onset epilepsies, focusing on epileptic encepha¬lopathies and Ohtahara syndrome in particular, with the goal of improving diagnosis and treatment.

Rett syndrome
The Rett Syndrome Research Program at Boston Children’s Hospital, led by David Lieberman, MD, PhD and Mustafa Sahin, MD, PhD, is committed to advancing our understanding of Rett syndrome and MECP2-related disorders by conducting research studies for patients with these rare neurodevelopmental disorders. In addition to offering multiple interventional clinical trials, we are also an active member of the NIH-sponsored Rett & Related Disorders Natural History Study and offering a new innovative biomarker study with two investigational devices that can track motion, breathing, and sleep of subjects through the collection of biometric, physiologic and electronic clinical outcome assessment data to be used for future clinical trials.

CDKL5 deficiency disorder
Boston Children’s Hospital’s CDKL5 Center of Excellence (COE), led by Heather Olson, MD, offers a comprehensive clinical care program dedicated to the care and evaluation of children and adults with CDKL5 deficiency disorder (CDD). The BCH COE enrolls patients in our clinic-based research program designed in collaboration with the other COEs and in the newly launched NIH UO1 funded International CDKL5 Clinical Research Network. We also have a strong collaborative network of researchers for translational and basic science CDKL5 research, which can be done in parallel with studies in our clinical center, including several interventional clinical trials.

PTEN Hamartoma Tumor Syndrome (PHTS)
The Multi-Disciplinary PTEN program, led by Siddharth Srivastava, MD in collaboration with the Developmental Synaptopathies Consortium, is conducting a Phase I/II clinical trial of the mTOR inhibitor, everolimus (Afinitor, Novartis Pharmaceuticals) in children and adolescents with PTEN mutations (U54NS092090). The primary aim of the study is to evaluate the safety of everolimus in this population of patients. Secondary outcomes include the short-term efficacy of everolimus on neurocognition and behavior, electrophysiological responses, dermatological features, and the microbiome of individuals with PTEN mutations.

Pediatric Status Epilepticus Research Group (pSERG)
pSERG is an international consortium coordinated out of Boston Children’s Hospital and lead by Dr. Tobias Loddenkemper. This consortium is developing a registry of refractory status epilepticus episodes with the goal of investigating outcomes of prolonged seizures that are resistant to at least two lines of antiepileptic rescue medications.

Tuberous sclerosis complex (TSC)
The Multi-Disciplinary Tuberous Sclerosis Program, led by Mustafa Sahin, MD, PhD, is currently conducting a clinical trial of the antiepileptic vigabatrin (Sabril, Lundbeck Pharmaceuticals). The primary objective of the study is to test whether early treatment versus delayed treatment with vigabatrin in infants with TSC will have a positive impact of developmental outcomes at 24 months of age. A second objective is to determine if early intervention will prevent or lower the risk of the child developing infantile spasms and refractory seizures

Duchenne Muscular Dystrophy
The Neuromuscular Program at Boston Children’s, led by Basil Darras, MD, is conducting a Phase III study of Golodirsen and Casimersen (Sarepta 4045-301 and 4045-302) of these two exon skipping drugs with the aim to ncrease production of dystrophin protein in boys with DMD. Another phase II study is investigating the drug Pamrevlumab by Fibrogen Inc. in the hopes that it will slow muscle degeneration in boys with DMD. Lastly, another phase III study by Catabasis Pharmaceuticals is investigating the use of Edasalonexent in boys with DMD, to see if it could be a viable replacement for steroid therapy, with reduced negative side effects.

Spinal Muscular Atrophy
The Spinal Muscular Atrophy Program at Boston Children's Hospital is led by Basil Darras, MD. His program was part of phase I , II, and III trials testing the safety and efficacy of Nusinersen or Spinraza which was the first FDA approved treatment for all types of SMA. Spinraza works by altering the splicing of the SMN2 gene, leading to the increased production of fully functional SMN protein. We continue to follow our original trial patients, through an extension protocol. Biogen, maker of Spinraza has started a new study, DEVOTE, to test higher doses of Spinraza. Our program has also participated in the phase II & III trials of an oral small molecule, Risdiplam by Roche that is also designed to alter the splicing of the SMN2 gene. These studies, FIREFISH and JEWELFISH, led to Risdiplam being approved by the FDA in August 2020. Additionally, we have participated in AveXis Inc.’s, gene therapy trials for SMA type I patients (STR1VE), and SMA Type II patients (STRONG) using an AAV9 viral vector to deliver the SMN1 gene. STR1VE delivers the vector intravenously, and STRONG delivers the vector intrathecally. This gene therapy was FDA approved as Zolgensma, via IV administration for patients under 2 years. Lastly, we have started the TOPAZ and SAPPHIRE trials, sponsored by Scholar Rock Inc., which are investigating an anti-myostatin monoclonal antibody, SRK-015, a muscle growth enhancer to be used in combination therapy with other SMA therapies to improve muscle strength. The SMA Program also has an ongoing SMA Registry and other studies, and is also collecting specimens for a biorepository, which are sponsored by the charitable foundation, Cure SMA.

Neonatal seizures
Janet Soul, MD, of Boston Children’s Fetal-Neonatal Neurology Program, is conducting a clinical trial directed at controlling neonatal seizures with bumetanide. Bumetanide is a diuretic that investigators at Boston Children’s and Massachusetts General Hospital have shown to lower chloride levels in the newborn brain, making neurons more responsive to GABA activation.

Neurofibromatosis and pediatric brain tumors
Nicole Ullrich, MD, PhD, Director of Neuro-Oncology, is a founding member of a national collaborative group currently conducting a series of clinical trials in patients with neurofibromatosis. Recent trials have included testing the MEK inhibitor binimetinib and Cabozantinib in neurofibromatosis type 1 (NF-1) and bevacizumab and crizotinib for vestibular schwannomas in NF-2. Ullrich was national study chair for a randomized, placebo-controlled trial of modafinil to reverse cognitive deficits in survivors of pediatric brain tumors through the Children's Oncology Group.  She is opening a new study using memantine to prevent cognitive decline related to radiation for primary brain tumors in children.

Advanced seizure tracking and warning systems
Seizures frequently are not identified by patients and families. This trial, led by Tobias Loddenkemper, MD, tests novel, portable epilepsy monitoring sensors and tools that can detect seizures by means of autonomic nervous system features, patient movement and other vital signs and parameters. The devices allow for rescue measures and tracking of less severe seizures and treatment responses and may help patients gain better control over seizures.

Angelman Syndrome
The purpose of this study conducted by Alexander Rotenberg, MD, PhD (PI: Neurology) and Wen-Hann Tan, MD (co-I: Genetics & Genomics) is to evaluate the reliability and validity of select neurobehavioral assessments and EEG biomarkers as endpoints for future clinical trials in children and adults with Angelman Syndrome (AS). This multisite study is sponsored by Roche Pharmaceuticals.

Absence Seizures
Alexander Rotenberg, MD, PhD is conducting this study to validate a software solution for detecting absence seizures with wearable and clinical EEG systems. This project is both retrospective and prospective in nature and it is sponsored by Epihunter NV in collaboration with the Epilepsy Foundation.

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