This study examines a gene therapy called scAAV9.U7.ACCA (AAV9 U7snRNA) in boys with a duplication of exon 2 in the DMD gene. It enrolled boys older than 6 months and younger than 14 years with a confirmed exon 2 duplication in the DMD gene. It was conducted in Phase 1/Phase 2 and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * Age greater than 6 months and less than 14 years * Confirmed duplication of exon 2 in the DMD gene using a clinically accepted technique that completely defines the mutation * Pre-ambulant (not yet walking) or ambulant (as defined by the ability to walk 10 meters without assistance) * Males of any ethnic group will be eligible * Ability to cooperate with muscle testing * In subjects age 4 and above, stable dose and regimen of corticosteroid therapy (prednisone, deflazacort, or their generic forms) for at least 12 weeks prior to gene transfer. Exclusion Criteria: * Active viral infection based on clinical observations * Symptoms or signs of cardiomyopathy, including: 1. Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs 2. Echocardiogram with ejection fraction below 40% * Serological evidence of HIV infection, or Hepatitis B or C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count \< 1.5K/µL * Concomitant illness or requirement for chronic drug treatment that in the opinion of the SI creates unnecessary risks for gene transfer * AAV9 binding antibody titers ≥ 1:400 as determined by ELISA immunoassay * Abnormal laboratory values in the clinically significant range as listed in Table 7, based upon normal values in the Nationwide Children's Hospital Laboratory.