Duchenne Muscular Dystrophy
Conditions
Brief summary
This is a controlled, open-label, single-ascending dose study to evaluate the safety and tolerability of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Participants will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years. The protocol was amended to drop the control arm after 4 participants were dosed.
Interventions
GENETICSGT-001
AAV9 vector containing muscle-specific promoter and microdystrophin construct
Sponsors
Solid Biosciences Inc.
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
4 Years to 17 Years
Healthy volunteers
No
Inclusion criteria
* Established clinical diagnosis of DMD and documented dystrophin gene mutation predictive of DMD phenotype * Confirmed absence of dystrophin as determined by muscle biopsy (ambulatory participants) * Anti-AAV9 antibodies below protocol-specified thresholds * Stable cardiac and pulmonary function * Adolescents: non-ambulatory by protocol-specified criteria * Children: ambulatory by protocol-specified criteria * Stable daily dose (or equivalent) of oral corticosteroids ≥ 12 weeks
Exclusion criteria
* Prior or ongoing medical condition or physical examination, ECG or laboratory findings that could adversely affect participant safety, compromise completion of treatment and follow-up, or impair assessment of study results * Abnormal liver function * Abnormal renal function * Clinically significant coagulation abnormalities * Impaired cardiovascular function based on cardiac MRI or ECHO * Impaired respiratory function based on FVC % predicted or need for daytime ventilatory support * Significant spinal deformity or presence of spinal rods * Body mass index ≥ 95th percentile for age * Exposure to another investigational drug within 3 months or 5 half-lives prior to screening * Exposure to drugs affecting dystrophin or utrophin expression within 6 months prior to screening Additional inclusion/
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of Participants with Treatment Emergent Adverse Events (TEAEs) | Up to 5 years |
Secondary
| Measure | Time frame |
|---|---|
| Number of Participants with Clinically Significant Abnormalities in Laboratory Parameters | Up to 5 years |
| Number of Participants with Clinically Significant Abnormalities in Vital Signs | Up to 5 years |
| Number of Participants with Clinically Significant Abnormalities in Physical Examinations | Up to 5 years |
| Number of Participants with Clinically Significant Abnormalities in Electrocardiogram (ECG) | Up to 5 years |
| Change from Baseline in Microdystrophin Protein Levels in Muscle Biopsies Using Western Blot (WB) | Baseline, 12 months |
| Change from Baseline in Microdystrophin Protein Levels in Muscle Biopsies Using Immunofluorescence (IF) | Baseline, 12 months |
| Change from Baseline in North Star Ambulatory Assessment (NSAA) score in Ambulatory Participants | Baseline, 12 months |
| Change from Baseline in 6-minute walk test (6MWT) Distance in Ambulatory Participants | Baseline, 12 months |
| Change from Baseline in Total Upper Limb Function, as Measured by the Total Performance of the Upper Limb (PUL) Functional Scale Score | Baseline, 12 months |
| Change from Baseline in Respiratory Function, as Measured by Forced Vital Capacity (FVC) % Predicted, Forced Expiratory Volume in 1 second (FEV1) % Predicted, and Peak Expiratory Flow (PEF) % Predicted | Baseline, 12 months |
| Change from Baseline in Ejection Fraction, As Measured by Echocardiography | Baseline,12 months |
| Change from Baseline in Left Ventricular End Systolic Volume, As Measured by Echocardiography | Baseline,12 months |
| Change from Baseline in Myocardial Peak Circumferential Strain (Ecc), As Measured by Echocardiography | Baseline,12 months |
| Change from Baseline in Quality of Life as Measured by the Paediatric Quality of Life Inventory (PedsQL) Duchenne muscular dystrophy (DMD) module and self-reported outcome measures as measured by the PODCI DMD module | Baseline, 12 months |
Countries
United States
Contacts
STUDY_DIRECTORSolid Bio Clinical Trials
Solid Biosciences
Outcome results
None listed