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AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.
Phase 1, PHASE2 trial testing scAAV9.U7.ACCA in Duchenne Muscular Dystrophy in 3 participants. Completed in 1 July 2025.
| Lead sponsor | Megan Waldrop |
|---|---|
| Phase | Phase 1, PHASE2 |
| Status | Completed |
| Study type | INTERVENTIONAL |
| Allocation | na |
| Design | single group |
| Masking | none |
| Primary purpose | treatment |
| Enrollment | 3 |
| Start date | 15 January 2020 |
| Primary completion | 13 November 2023 |
| Estimated completion | 1 July 2025 |
| Sites | 1 location across United States |
Megan Waldrop — full company profile →
Adults 6 Months to 13, male only, with Duchenne Muscular Dystrophy. Patients with the condition only — healthy volunteers not accepted.
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Unacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities, as defined by CTCAE 5.0.
| Group | Value | 95% CI |
|---|---|---|
| Cohort 1 (Minimal Efficacious Dose) | 0 |
Expression of dystrophin will be measured by immunofluorescent (IF) staining in muscle biopsies taken before and after gene therapy. This method allows for visualization of the protein and its proper location in the muscle fiber in comparison to normal protein expression.
| Group | Value | 95% CI |
|---|---|---|
| Cohort 1 (Minimal Efficacious Dose) | 46.6 | ± 36.8 |
Expression of dystrophin will be quantified by western blotting in muscle biopsies taken before and after gene therapy. This method allows for quantification of the protein amount in comparison to normal protein expression amounts.
| Group | Value | 95% CI |
|---|---|---|
| Cohort 1 (Minimal Efficacious Dose) | 30.1 | ± 38.6 |
Exon 2 exclusion will be measured using RT-PCR analysis.
| Group | Value | 95% CI |
|---|---|---|
| Cohort 1 (Minimal Efficacious Dose) | 4.9 | ± 4.8 |
| Group | Value | 95% CI |
|---|---|---|
| Cohort 1 (Minimal Efficacious Dose) | 33.6 | ± 45.4 |
Time frame: 2 years. Reporting threshold: 0%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.
| Reaction | System | Cohort 1 (Minimal Efficaci… |
|---|---|---|
| Vomiting | Gastrointestinal disorders | — |
| COVID-19 Infection | Infections and infestations | — |
| Elevated AST | Gastrointestinal disorders | — |
| Increased GI Reflux | Gastrointestinal disorders | — |
| Biopsy Site Discomfort | Surgical and medical procedures | — |
| Elevated ALT | Gastrointestinal disorders | — |
| Hoarseness | Gastrointestinal disorders | — |
| Loose stool/Diarrhea | Gastrointestinal disorders | — |
| Generalized Body Pain | General disorders | — |
| Irritability | General disorders | — |
| Mild to Moderate Dehydration | General disorders | — |
| Weight Gain | General disorders | — |
| Decreased ANC | Infections and infestations | — |
| Decreased Apetite | Infections and infestations | — |
| Decreased WBC | Infections and infestations | — |
| Fever | Infections and infestations | — |
| Right Great Toe Onychocyrptosis | Infections and infestations | — |
| Thrush | Infections and infestations | — |
| Viral Gastroenteritis | Infections and infestations | — |
| Viral Illness (URBX5, GI 5X5) | Infections and infestations | — |
| Viral Infection | Infections and infestations | — |
| Viral Syndrome | Infections and infestations | — |
| Decreased Vitamin D | Metabolism and nutrition disorders | — |
| Ankle Sprain | Musculoskeletal and connective tissue disorders | — |
| Right Heel Pain | Musculoskeletal and connective tissue disorders | — |
| Left foot discomfort | Musculoskeletal and connective tissue disorders | — |
| Left Thigh Pain | Musculoskeletal and connective tissue disorders | — |
| Right Thing Pain | Musculoskeletal and connective tissue disorders | — |
| Upper and Midline Backpain | Musculoskeletal and connective tissue disorders | — |
| Erythematous Macuopapular Rash | Skin and subcutaneous tissue disorders | — |
| Irritant Diaper Dermatitis | Skin and subcutaneous tissue disorders | — |
| Contact Dermatitis | Surgical and medical procedures | — |
| Flu-like Symptoms | Surgical and medical procedures | — |
| Left IV Site Pain | Surgical and medical procedures | — |
| Nausea | Surgical and medical procedures | — |
Data from ClinicalTrials.gov NCT04240314 adverse events section.
Open-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.
8 peer-reviewed publications reference this trial (live from Europe PMC):
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Currently open trials in the same condition.
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04240314.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing