Research snapshot

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Contact the Neurology Department

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.

Ongoing Basic and Translational Research

Larry Benowitz, PhD
Brain rewiring after injury

Chinfei Chen, MD, PhD
Synaptic plasticity

Gabriel Corfas, PhD
Neuron-glia interactions

Michael Tri 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

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

Xi He, PhD
Early nervous system development, Wnt signaling

Zhigang He, PhD, BM
Axon regeneration

Takao Hensch, PhD
Critical periods in brain development

Jeffrey Holt, PhD
Molecular basis of hearing and deafness

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

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

Paul Rosenberg, MD, PhD
Mechanisms of brain injury, sleep regulation, glutamate transport

Mustafa Sahin, MD, PhD
Axon development and neurologic 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

Joseph Volpe, MD
Brain injury in premature infants

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


A Sample of Current Clinical Trials

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
Boston Children’s Hospital is the first hospital in the nation to implement a clinical trial seeking to treat the underlying cause of Rett Syndrome. Led by Walter Kaufmann, MD, director of the Rett Syndrome Program, the trial is testing rhIGF-1 (mecasermin), an injectable growth factor that is already FDA-approved for treating primary IGF-1 deficiency. As Rett Syndrome is an autism spectrum disorder, the results may have implications for other developmental disorders.

Autism spectrum disorder with epileptiform activity
This study, led by Sarah Spence, MD, PhD, is examining the effect of valproate on epileptiform EEG discharges in children with ASD to determine whether this medication might reduce discharge counts or improve behavior, particularly aggression, attention and externalizing behaviors.

Down syndrome
Walter Kaufmann, MD, with Nicole Baumer, MD, who recently completed her Neu¬rodevelopmental Disabilities residency, are conducting the first randomized controlled trial of behavioral therapy in children with Down syndrome, using Applied Behavioral Analysis (ABA). The use of behavioral interventions for improving not only problem behaviors, but also cognitive and adaptive functioning may be useful in developing new diagnostic and therapeutic strategies for this patient group.

Tuberous sclerosis complex (TSC)
The Multi-Disciplinary Tuberous Sclerosis Program at Boston Children’s, led by Mustafa Sahin, MD, PhD, is currently conducting a clinical trial of the mTOR inhibitor everolimus (Afinitor®, Novartis Pharmaceuticals). The trial is testing whether the drug reduces learning deficits and autistic symptoms in children with TSC.

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. Trials currently recruiting are 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 neuro¬cognitive battery to assess the treatment intervention.

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

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