Limb-Girdle Muscular Dystrophy, Type 2E
Conditions
Keywords
limb girdle muscular dystrophy, LGMD2E, beta-sarcoglycan, gene transfer, adeno-associated virus, LGMDR4
Brief summary
The proposed clinical trial is the first-in-human, single-center, open-label, gene delivery study of SRP-9003 (bidridistrogene xeboparvovec) in participants with LGMD2E.
Interventions
GENETICSRP-9003
SRP-9003 will be administered through a single systemic injection.
Sponsors
Sarepta Therapeutics, Inc.
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to 15 Years
Healthy volunteers
No
Inclusion criteria
* Males or females of any ethnic group * β-SG deoxyribonucleic acid (DNA) gene mutations at both alleles * Weakness demonstrated based on history of difficulty in running, jumping and climbing stairs * A 100 meter walk/run (MWR) test result: ≥40 % of predicted for age-, height-, gender-, and weight-matched healthy controls at the screening visit
Exclusion criteria
* Active viral infection based on clinical observations * Cardiac magnetic resonance imaging (MRI) determined left ventricular ejection fraction (LVEF) \<40% * Serological evidence of human immunodeficiency virus (HIV), hepatitis B, or hepatitis C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Abnormal laboratory values considered clinically significant * Concomitant illness or requirement for chronic drug treatment that, in the opinion of the Principal Investigator, creates unnecessary risks for gene transfer. Other inclusion/
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs) | Baseline up to 7 years |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change From Baseline in Quantity of Beta-Sarcoglycan (β-SG) Protein Expression at Day 60, as Measured by Western Blot | Baseline, Day 60 | β-SG gene expression levels will be quantified by Western Blot and compared between pre and post muscle biopsies. |
| Change From Baseline in Quantity of β-SG Protein Expression at Day 60, as Measured by Immunofluorescence | Baseline, Day 60 | β-SG gene expression levels will be quantified by immunofluorescence and compared between pre and post muscle biopsies. |
| Change From Baseline in Quantity of β-SG Protein Expression at Day 60, as Measured by Immunohistochemistry Percent B-SG Positive Fibers | Baseline, Day 60 | — |
Countries
United States
Contacts
STUDY_DIRECTORMedical Director
Sarepta Therapeutics, Inc.
Outcome results
None listed