E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Duchenne Muscular Dystrophy |
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E.1.1.1 | Medical condition in easily understood language |
Duchenne muscular dystrophy is a rare, serious, life-threatening, X- linked recessive, degenerative neuromuscular disease caused by mutations in the dystrophin gene. |
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E.1.1.2 | Therapeutic area | Diseases [C] - Musculoskeletal Diseases [C05] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.1 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10052655 |
E.1.2 | Term | Duchenne muscular dystrophy gene carrier |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
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E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
The objective of this study is the assessment of the safety of intravenous administration of SRP-9001 (microDys-IV-001) for DMD participants via peripheral limb vein. |
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E.2.2 | Secondary objectives of the trial |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
• Cohort A participants: 3 months to 3 years of age, inclusive. • Cohort B participants: 4 to 7 years of age, inclusive. • Definitive diagnosis of DMD based on documented clinical findings and prior genetic testing. • Ability to cooperate with motor assessment testing. • Cohort A participants: No previous treatment with corticosteroids. • Cohort B participants: Stable dose equivalent of oral corticosteroids for at least 12 weeks prior to screening and the dose is expected to remain constant (except for potential modifications to accommodate changes in weight) throughout the first year of the study. • Cohorts A & B: A frameshift mutation contained between exons 18 and 58 (inclusive).
Other inclusion criteria could apply. |
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E.4 | Principal exclusion criteria |
• Exposure to gene therapy, investigational medication, or any treatment designed to increase dystrophin expression within protocoI-specified time limits. • Abnormality in protocol-specified diagnostic evaluations or laboratory tests. • Presence of any other clinically significant illness, medical condition, or requirement for chronic drug that in the opinion of the Investigator creates unnecessary risk for gene transfer.
Other exclusion criteria could apply. |
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E.5 End points |
E.5.1 | Primary end point(s) |
Cohorts A and B: Number of Participants with Adverse Events (AEs) |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
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E.5.2 | Secondary end point(s) |
• Cohort A: Gross Motor Subtest Scaled (Bayley-III) Score • Cohorts A and B: The 100 Meter Timed Test (100m) Physical Therapy Assessment • Cohorts A and B: Change From Baseline of Micro-dystrophin Gene Expression Quantification by Immunofluorescence • Cohorts A and B: Change From Baseline of Micro-dystrophin Gene Expression Quantification by Western Blot |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
• Bayley-III Score: Day 30 up to 3 Years • Physical Therapy Assessment: Up to 5 Years • Immunofluorescence: Baseline, Day 90 • Western Blot: Baseline, Day 90 |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | No |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | Yes |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | Yes |
E.7.1.3.1 | Other trial type description |
This is a Phase I/IIa study, with safety as the primary measure. |
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E.7.2 | Therapeutic exploratory (Phase II) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | Yes |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 2 |
E.8.3 |
Will this trial be conducted at a single site globally?
| Yes |
E.8.4 | Will this trial be conducted at multiple sites globally? | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.2 | Trial being conducted completely outside of the EEA | Yes |
E.8.6.3 | Specify the countries outside of the EEA in which trial sites are planned |
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E.8.7 | Trial has a data monitoring committee | Yes |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
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Last participant last visit |
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.2 | In all countries concerned by the trial years | 5 |
E.8.9.2 | In all countries concerned by the trial months | 0 |
E.8.9.2 | In all countries concerned by the trial days | 0 |