Trial Outcomes & Findings for AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications. (NCT NCT04240314)
NCT ID: NCT04240314
Last Updated: 2025-09-11
Results Overview
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.
Recruitment status
COMPLETED
Study phase
PHASE1/PHASE2
Target enrollment
3 participants
Primary outcome timeframe
2 years
Results posted on
2025-09-11
Participant Flow
Participant milestones
| Measure |
Cohort 1 (Minimal Efficacious Dose)
The Minimal Effective Dose (MED) will be delivered.
scAAV9.U7.ACCA: A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.
|
|---|---|
|
Overall Study
STARTED
|
3
|
|
Overall Study
COMPLETED
|
3
|
|
Overall Study
NOT COMPLETED
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.
Baseline characteristics by cohort
| Measure |
Cohort 1 (Minimal Efficacious Dose)
n=3 Participants
The Minimal Effective Dose (MED) will be delivered.
scAAV9.U7.ACCA: A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.
|
|---|---|
|
Age, Categorical
<=18 years
|
3 Participants
n=5 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
0 Participants
n=5 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=5 Participants
|
|
Age, Continuous
|
8 Years
n=5 Participants
|
|
Sex: Female, Male
Female
|
0 Participants
n=5 Participants
|
|
Sex: Female, Male
Male
|
3 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
1 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
2 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Asian
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Black or African American
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
White
|
2 Participants
n=5 Participants
|
|
Race (NIH/OMB)
More than one race
|
1 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=5 Participants
|
|
Region of Enrollment
United States
|
3 participants
n=5 Participants
|
PRIMARY outcome
Timeframe: 2 yearsUnacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities, as defined by CTCAE 5.0.
Outcome measures
| Measure |
Cohort 1 (Minimal Efficacious Dose)
n=3 Participants
The Minimal Effective Dose (MED) will be delivered.
scAAV9.U7.ACCA: A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.
|
|---|---|
|
Number of Participants With Unacceptable Toxicity.
|
0 Participants
|
SECONDARY outcome
Timeframe: 1 yearExpression 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.
Outcome measures
| Measure |
Cohort 1 (Minimal Efficacious Dose)
n=3 Participants
The Minimal Effective Dose (MED) will be delivered.
scAAV9.U7.ACCA: A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.
|
|---|---|
|
Change in Dystrophin Expression From Baseline Following Treatment With scAAV9.U7.ACCA.
|
46.6 % Change in dystrophin expression
Standard Deviation 36.8
|
SECONDARY outcome
Timeframe: 1 yearExpression 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.
Outcome measures
| Measure |
Cohort 1 (Minimal Efficacious Dose)
n=3 Participants
The Minimal Effective Dose (MED) will be delivered.
scAAV9.U7.ACCA: A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.
|
|---|---|
|
Change in Dystrophin Expression From Baseline Following Treatment With scAAV9.U7.ACCA.
|
30.1 % Change in dystrophin expression
Standard Deviation 38.6
|
SECONDARY outcome
Timeframe: 1 yearExon 2 exclusion will be measured using RT-PCR analysis.
Outcome measures
| Measure |
Cohort 1 (Minimal Efficacious Dose)
n=3 Participants
The Minimal Effective Dose (MED) will be delivered.
scAAV9.U7.ACCA: A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.
|
|---|---|
|
Changes in Percent of Exon 2 Skipping/Exclusion in the Dystrophin mRNA Transcript.
Skipping of 1 Exon 2
|
4.9 % Exon 2 Exclusion
Standard Deviation 4.8
|
|
Changes in Percent of Exon 2 Skipping/Exclusion in the Dystrophin mRNA Transcript.
Skipping of 2 Exons 2
|
33.6 % Exon 2 Exclusion
Standard Deviation 45.4
|
Adverse Events
Cohort 1 (Minimal Efficacious Dose)
Serious events: 0 serious events
Other events: 3 other events
Deaths: 0 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
| Measure |
Cohort 1 (Minimal Efficacious Dose)
n=3 participants at risk
The Minimal Effective Dose (MED) will be delivered.
scAAV9.U7.ACCA: A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.
|
|---|---|
|
Gastrointestinal disorders
Elevated ALT
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Gastrointestinal disorders
Elevated AST
|
66.7%
2/3 • Number of events 4 • 2 years
|
|
Gastrointestinal disorders
Hoarseness
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Gastrointestinal disorders
Increased GI Reflux
|
66.7%
2/3 • Number of events 2 • 2 years
|
|
Gastrointestinal disorders
Loose stool/Diarrhea
|
33.3%
1/3 • Number of events 2 • 2 years
|
|
Gastrointestinal disorders
Vomiting
|
100.0%
3/3 • Number of events 5 • 2 years
|
|
General disorders
Generalized Body Pain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
General disorders
Irritability
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
General disorders
Mild to Moderate Dehydration
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
General disorders
Weight Gain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
COVID-19 Infection
|
100.0%
3/3 • Number of events 3 • 2 years
|
|
Infections and infestations
Decreased ANC
|
33.3%
1/3 • Number of events 3 • 2 years
|
|
Infections and infestations
Decreased Apetite
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
Decreased WBC
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
Fever
|
33.3%
1/3 • Number of events 2 • 2 years
|
|
Infections and infestations
Right Great Toe Onychocyrptosis
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
Thrush
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
Viral Gastroenteritis
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
Viral Illness (URBX5, GI 5X5)
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
Viral Infection
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Infections and infestations
Viral Syndrome
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Metabolism and nutrition disorders
Decreased Vitamin D
|
33.3%
1/3 • Number of events 2 • 2 years
|
|
Musculoskeletal and connective tissue disorders
Ankle Sprain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Musculoskeletal and connective tissue disorders
Right Heel Pain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Musculoskeletal and connective tissue disorders
Left foot discomfort
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Musculoskeletal and connective tissue disorders
Left Thigh Pain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Musculoskeletal and connective tissue disorders
Right Thing Pain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Musculoskeletal and connective tissue disorders
Upper and Midline Backpain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Skin and subcutaneous tissue disorders
Erythematous Macuopapular Rash
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Skin and subcutaneous tissue disorders
Irritant Diaper Dermatitis
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Surgical and medical procedures
Biopsy Site Discomfort
|
66.7%
2/3 • Number of events 7 • 2 years
|
|
Surgical and medical procedures
Contact Dermatitis
|
33.3%
1/3 • Number of events 2 • 2 years
|
|
Surgical and medical procedures
Flu-like Symptoms
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Surgical and medical procedures
Left IV Site Pain
|
33.3%
1/3 • Number of events 1 • 2 years
|
|
Surgical and medical procedures
Nausea
|
33.3%
1/3 • Number of events 2 • 2 years
|
Additional Information
Megan Waldrop, Sponsor-Investigator
Nationwide Children's Hospital
Phone: 614-722-2231
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place