AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.

Plain-language summary

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.

Trial details

Phase

PHASE1/PHASE2

Status

Completed

Sponsor

Megan Waldrop

Intervention

scAAV9.U7.ACCA

Start date

1/15/2020

Estimated completion

7/1/2025

Countries

United States

Related genes

Locations

• Columbus, United States

Eligibility criteria

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.