Phase1/2 study, First in Human, of SRP-4053 in DMD patients (4053-101)
Research type
Research Study
Full title
A 2-Part, Randomized, Double-Blind, Placebo-Controlled, Dose Titration, Safety, Tolerability, and Pharmacokinetics Study (Part 1) Followed by an Open-Label Efficacy and Safety Evaluation (Part 2) of SRP-4053 in Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping
IRAS ID
157456
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
Sarepta Therapeutics, Inc.
Eudract number
2014-002008-25
Research summary
Duchenne muscular dystrophy (DMD) is a rare disease caused mispellings in the dystrophin gene. In DMD, misspellings in the dystrophin gene result in an absence of a functional dystrophin protein. In the absence of dystrophin, the stress of muscle activity causes damage and over time, loss of muscle tissue. The clinical effect of the absence of a functional dystrophin protein is dramatic and lethal.
There are currently no disease-modifying treatments for DMD. Existing interventions are largely supportive in nature and include bracing, muscle stretching exercises to avoid onset of contractures, tendon release surgery, and eventual wheelchair use and assisted ventilation.
SRP-4053 is expected to enable the production of an internally truncated, yet functional, dystrophin protein, similar to that observed in Becker muscular dystrophy (BMD), a much less severe form of muscular dystrophy. In contrast to DMD, most BMD patients remain able to walk for the duration of their life and have a near normal life expectancy.
This study is designed to enroll up to 48 DMD boys subjects aged 6 to 15 years old inclusive and will last approximately 70 weeks. The study will be conducted in NHS hospitals in the United Kingdom. This study will also be conducted in France and in Italy.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
14/SC/1128
Date of REC Opinion
18 Aug 2014
REC opinion
Further Information Favourable Opinion