Research snapshot

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, Boston Children’s 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

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

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

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 current 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.

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.

Rett syndrome
The Rett Syndrome Research Program at Boston Children’s Hospital, led by Mustafa Sahin, MD, PhD and David Lieberman, MD, PhD, is committed to advancing our understanding of Rett syndrome and MECP2-related disorders by running clinical trials and research studies. We are also developing innovative biomarkers that can be used to assess severity and treatment effectiveness in current and future clinical trials.

PTEN Hamartoma Tumor Syndrome (PTEN)
The Multi-Disciplinary PTEN program, led by Mustafa Sahin, MD, PhD, 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.

Autism spectrum disorder with epileptiform activity
Nicole Baumer, MD, MEd, is the principal investigator at Boston Children’s for a Phase II study of RO5285119 (Roche Pharmaceuticals) in children and adolescents with ASD. The purpose of this trial is to look at the safety and effectiveness of the investigational medication, which may help with social interaction and communication symptoms.

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 Ataluren (PTC124) in the hope that the drug will restore production of dystrophin in children with DMD. A related study is investigating electrical impedance myography and ultrasound as biomarkers of DMD.

Spinal muscular atrophy
The Spinal Muscular Atrophy Program is part of Phase I and II trials testing the safety and tolerability of ISIS-smnRx as a potential treatment for all types of SMA. The drug works by altering the splicing of the SMN2 gene, leading to the increased production of fully functional SMN protein. The SMA Program also has an ongoing natural history study and is collecting specimens for a biorepository.

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 PD-0325901 and Cabozantinib in neurofibromatosis type 1 (NF-1) and bevacizumab in NF-2. Ullrich is also national study chair for a randomized, placebo-controlled trial of modafinil to reverse cognitive deficits in survivors of pediatric brain tumors. Sponsored by the Children’s Oncology Group, the study is using a computerized neurocognitive battery to assess the treatment intervention.