Child Neurology Residency Training Program
Ongoing Clinical Trials
Members of the Department of Neurology at Boston Children's Hospital, often in collaboration with basic scientists and clinicians in other departments and institutions, are actively engaged in a wide range of clinical trials.
Currently ongoing clinical trials include:
Rett Syndrome:
Walter Kaufmann, MD, Director of the Rett Syndrome Program, is conducting a clinical trial investigating the treatment of Rett syndrome with rhIGF-1 (mecasermin). IGF-1 is an injectable growth factor which is already FDA approved for treating Laron syndrome (primary IGF-1 deficiency). Studies conducted in the mouse model of the disease demonstrated that treatment with IGF-1 increased the life span of mice as well as improved their motor function and respiratory patterns. As an autism spectrum disorder, trials in Rett Syndrome may have implications for other developmental disorders. Dr. Kaufmann and his team work closely with the departments of Developmental Medicine, Cardiology, Pulmonology and Ophthalmology. 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.
Tuberous Sclerosis Complex (TSC):
The Multi-Disciplinary Tuberous Sclerosis Program at Boston Children's, led by Mustafa Sahin, MD, PhD, is currently conducting two clinical trials for individuals diagnosed with TSC. The trials involve Afinitor, an mTOR inhibitor, made by Novartis Pharmaceuticals. One clinical trial is in the open-label phase and confirms whether Afinitor reduces the size of subependymal giant cell astrocyomas (SEGAs) in individuals with TSC. Dr. Sahin is also the sponsor-principal investigator for a phase II clinical trial with Afinitor to demonstrate whether it may reduce learning deficits and autistic symptoms in children with TSC. This clinical trial is performed in collaboration with Cincinnati Children’s Hospital Medical Center and is expected to complete enrollment by December 2013.
Duchenne Muscular Dystrophy
The Neuromuscular Program at Boston Children's, led by Basil Darras, MD, is conducting an open-label safety study for an experimental medication named PTC124, developed by PTC Therapeutics and with support from the Muscular Dystrophy Association. The drug hopes to restore production of dystrophin in children with DMD. They are also involved in a natural history study that seeks to correlate heart and muscle function, and outcome measure studies looking at non-ambulatory boys and infants.
Spinal Muscular Atrophy
The Spinal Muscular Atrophy Program at Boston Children's Hospital is proud to be a part of a Phase I trial for a new SMA drug. This study is testing the safety and tolerability of ISIS-smnRx, a drug that may be a potential treatment for all Types of SMA. ISIS- smnRx is designed to treat SMA by altering the splicing of the SMN2 gene that leads to the increased production of fully functional SMN protein. Right now the Phase I study is coming to a close, and a future Phase II study will begin in late fall.
The SMA Program also has an ongoing natural history study, and is collecting biological specimens for a biorepository.
Hypoxic-Ischemic Encephalopathy (HIE):
Janet Soul, MD, Associate Director of Boston Children's Fetal-Neonatal Neurology Program, in collaboration with Anne Hansen, MD, MPH, Medical Director of the NICU, are offering newborn patients a new hypothermia treatment that may prevent or minimize the long-term consequences of brain injury due to HIE: cerebral palsy, cognitive and visual impairments. Boston Children’s is the first and only hospital in Massachusetts to offer this protocol as therapy.
Neonatal Seizures:
Dr. Soul is also conducting a clinical trial directed at controlling neonatal seizures with bumetanide, a diuretic that has been demonstrated in the laboratories of Frances Jensen, MD, formerly at Boston Children's, and Kevin Staley, MD, of Massachusetts General Hospital, to lower chloride levels in the newborn brain and make the nerve cells of neonates more responsive to GABA activation.
Neurofibromatosis type 1 (NF1):
The Multidisciplinary Neurofibromatosis Program and Boston Children’s Hospital is conducting several clinical trials for individuals with NF1 led by Nicole Ullrich, MD, PhD,, Associate Director and Director of Clinical Trials for the Neurofibromatosis Program.
The first trial is for individuals with NF1 and plexiform neurofibromas. The trial involves a pegylated form of interferon and is targeted at patients with symptomatic and/or growing plexiform neurofibromas, from age 6 months to 21 years. A trial for plexiform neurofibromas using rapamycin sponsored by the Neurofibromatosis Clinical Trials Consortium/Department of Defense recently was closed to accrual.
The next trial is for individuals with NF1 and learning difficulties. NF1 STARS is a randomized clinical trial of lovastatin to reverse attention and spatial working memory deficits in children with NF1 and is sponsored by the Neurofibromatosis Clinical Trials Consortium/Department of Defense. Enrollment began in fall 2009 and is expected to continue through spring of 2013. This study involves 10 sites nationally and internationally with the hope of accruing 142 patients.
The next trial is for individuals with NF1 and chemotherapy-refractory low grade gliomas. The trial involves a novel derivative of rapamycin (everolimus or RAD001) and is sponsored by the Neurofibromatosis Clinical Trials Consortium/Department of Defense. This trial involves 12 sites in the US and enrollment began in spring 2011.
A trial for individuals with NF1 and chemotherapy-refractory malignant peripheral nerve sheath tumors (MPNST) is anticipated to open in fall 2012. This trial will use a novel derivative of rapamycin (everolimus or RAD001) in combination with bevacizumab and is co-sponsored by the SARC consortium along with the Neurofibromatosis Clinical Trials Consortium/Department of Defense.
Neurofibromatosis type 2 (NF2):
The Multidisciplinary Neurofibromatosis Program and Boston Children’s Hospital is conducting a clinical trial for individuals with NF2 led by Nicole Ullrich, MD, PhD, Associate Director and Director of Clinical Trials for the Neurofibromatosis Program. This will involve bevacizumab for individuals with NF2 and symptomatic vestibular schwannomas. Patients must have radiologic progression and/or progressive hearing loss. Enrollment is expected to begin fall 2012.
Hutchinson-Gilford Progeria Syndrome (Progeria):
In collaboration with the Progeria treatment team, Dr. Ullrich participates as the study neurologist for an NIH-sponsored study of lonafarnib, pravastatin, zoledronic acid and everolimus for children with Hutchinson-Gilford Progeria Syndrome, a syndrome of premature aging characterized also by early onset of myocardial infarction and strokes. Enrollment is expected to begin fall 2012. There have been two prior studies recently completed including single agent lonafarnib and triple-drug trial of lonafarnib, pravastatin and zoledronic acid. The current and most recent trial also have imaging parameters and stroke as secondary outcome measures.
Pediatric Brain Tumors:
Dr. Nicole Ullrich is currently Director of Neurologic NeuroOncology at Dana-Farber Cancer Institute and she is the national study chair for a randomized, placebo-controlled trial of modafinil to reverse cognitive deficits for survivors of pediatric brain tumors. This study is sponsored by the Children’s Oncology Group and will also use a computerized neurocognitive battery to assess the treatment intervention. The study opened for enrollment in spring 2012.
