Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy Type 2D/R3
Conditions
Keywords
Limb Girdle Muscular Dystrophy Type 2D/R3, SRP-9004
Brief summary
The primary objective of this study is to evaluate the safety of SRP-9004.
Interventions
DRUGSRP-9004
Intravenous (IV) infusion.
Sponsors
Sarepta Therapeutics, Inc.
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: * Ambulatory participants, defined as able to walk without assistive aid, 10MWR \<30 seconds, and NSAD total score ≥25; non-ambulatory participant, defined as 10MWR ≥30 seconds or unable to perform, and PUL 2.0 entry scale score ≥3. * Ambulatory participants must be 4 to 20 years of age and the non-ambulatory participant must be ≥4 years of age. * All participants must be ≤70 kilograms * Possess 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic α-SG deoxyribonucleic acid (DNA) gene mutations as documented prior to screening. * Able to cooperate with muscle testing. * Participants must have adeno-associated virus (AAV) serotype Rh74 (rh74) antibody titers \<1:400 (that is, not elevated) as determined by an enzyme-linked immunosorbent assay (ELISA). Key
Exclusion criteria
* Left ventricular ejection fraction \<40% or clinical signs and/or symptoms of cardiomyopathy * FVC ≤40% of predicted value and/or requirement for nocturnal ventilation * Any other clinically significant illness, including neuromuscular (other than limb girdle muscular dystrophy type 2D/R3 \[LGMD2D/R3\]), that in the opinion of the Investigator might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability. Other inclusion/
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of Participants with Treatment-emergent Adverse Events (TEAEs), Adverse Events of Special Interest (AESI) and Treatment-emergent Serious Adverse Events (SAEs) | Up to 60 months |
Secondary
| Measure | Time frame |
|---|---|
| Time to Change of Disease Milestones (Loss of Ambulation) | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Skeletal Muscle Magnetic Resonance Imagining (MRI) Findings | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Time to Complete 100-meter Walk/Run (100MWR) | Baseline, Month 60 |
| Change from Baseline Through Day 60 in Quantity of Alpha-sarcoglycan (α-SG) Protein Expression | Baseline, Day 60 |
| Change from Baseline Through Month 24 in Quantity of α-SG Protein Expression | Baseline, Month 24 |
| Change from Baseline Through Month 60 in North Star Assessment for Dysferlinopathy (NSAD) Total Score | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Performance of the Upper Limb (PUL) Version 2.0 Total Score | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Time to Rise From Floor | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Time to Ascend 4 Steps | Baseline, Month 60 |
| Change from Baseline through Month 60 in Creatine Kinase (CK) Level | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Wearable Device Stride Velocity 95% (SV95C) (Ambulatory Participants Only) | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Vital Capacity (FVC) | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FVC Percentage (%) Predicted | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Expiratory Volume in 1 Second (FEV1) | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FEV1 % Predicted | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Peak Expiratory Flow Rate (PEFR) | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Inspiratory Pressure (MIP) | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Expiratory Pressure (MEP) | Baseline, Month 60 |
| Change from Baseline Through Month 60 in Time to Complete 10-meter Walk/Run (10MWR) | Baseline, Month 60 |
Countries
United States
Outcome results
None listed