Neuromuscular Program

Current Program Studies

Below are some of The Children's Hospital of Philadelphia's recent and ongoing studies in neuromuscular disease. Patients who participate in research are pioneers who may improve the quality and length of the lives of themselves and others with neuromuscular disease. If you or someone you know is interested in taking part in a study, contact Maryjane Benton (SMA studies) at 267-426-7215 or Lindsay Dorsey (DMD/BMD studies) at 267-426-7623. For eligibility information, access the links below.

Clinical Study of Spinal Muscular Atrophy, conducted by Pediatric Neuromuscular Clinical Research Network (PNCR) and sponsored by the Spinal Muscular Atrophy Foundation
A Phase 1 Study of Phenylbutyrate in Spinal Muscular Atrophy, sponsored by the National Institutes of Health
A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy. This study is a Phase 2b, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, efficacy and safety study, designed to document the clinical benefit of PTC124 when administered as therapy of patients with DMD/BMD due to a nonsense mutation (premature stop codon) in the dystrophin gene.
The United Dystrophinopathy Project (UDP) funded by Parent Project Muscular Dystrophy and the National Institutes of Health for Translational Research in the Dystrophinopathies

Recently completed trials

Clinical Trials for Pediatric Spinal Muscular Atrophy (SMA) Open Label Pilot Trial of Rilutek in Infants with SMA. (AmSMART)
Clinical Trials for Pediatric Spinal Muscular Atrophy (SMA) Estimation of Riluzole Steady-State Pharmacokinetics and Metabolism in Infants with Spinal Muscular Atrophy (SMA).
Clinical Trials for Pediatric Spinal Muscular Atrophy (SMA)
Reliability Study of the Motor Unit Number Estimate (MUNE)
Clinical Trials for Pediatric Spinal Muscular Atrophy: Reliability and Validity of a Quality of Life Tool (AmSMART-QOL)
SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacogical Compounds In Vitro (Fischbeck)
Defining Outcome Parameters for Clinical Trials in Spinal Muscular Atrophy, Type 1 (CHOP SMA)

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