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Phase 2 N=2 Treatment

Gene Transfer Clinical Trial to Deliver rAAVrh74.MCK.GALGT2 for Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Enrolled (actual)
2
Serious AEs
0.0%
Results posted
Apr 2022
Primary outcome: Primary: Number of Unanticipated Grade III or Higher Treatment-Related Toxicities — 0; 0 events

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
rAAVrh74.MCK.GALGT2 (Biological)
Age
Pediatric, Adult, Older Adult · 4+ yrs
Sex
Male
Sponsor
Kevin Flanigan
Primary completion
Nov 2020

Outcome Measures

OutcomeResultp-value
PRIMARY
Number of Unanticipated Grade III or Higher Treatment-Related Toxicities
0; 0
SECONDARY
Expression of GALGT2 as Demonstrated by Immunofluorescent Staining With Anti-CT Epitope Antibodies or WFA Lectin in Muscle Biopsy Sections at 120 Days Post Injection (Cohort 1) and 90 Days Post-injection (Cohort 2).
1.95; 1.72
SECONDARY
GALGT2 Protein Expression Quantified by Western Blot and Assessed by Densitometry in Muscle Biopsy Tissue at 120 Days Post-injection (Cohort 1) and 90 Days Post-injection (Cohort 2)
12; 14.6

Summary

The proposed clinical trial study of rAAVrh74.MCK.GALGT2 for duchenne muscular dystrophy (DMD) patients. There will be a modified intravascular limb infusion (ILI) procedure that will be used to sequentially deliver vector to each whole lower limb of DMD subjects via a major lower limb artery.

Eligibility Criteria

Inclusion Criteria

  • Ambulant patients age 4 years or older
  • Confirmed mutations in the DMD gene using a clinical accepted technique that completely defines the mutation 1,2
  • • Measurably impaired muscle function (defined as less than 80% of the predicted value for 100 MWT), but with sufficient muscle preservation to ensure assessment of muscle transfection based on clinical evaluation by the PI and expert colleagues. This degree of preservation will include:
  • Ability to extend the knee fully against gravity
  • Preserved ambulation with ability to walk ≥ 350 meters during the 6MWT
  • A magnetic resonance image of the quadriceps showing preservation of sufficient muscle mass to permit transfection
  • Males of any ethnic group will be eligible
  • Ability to cooperate with muscle testing
  • Stable daily dose of corticosteroid therapy (including either prednisone, prednisolone, deflazacort or their generic forms) for 12 weeks prior to gene transfer

Exclusion Criteria

  • Active viral infection based on clinical observations
  • The presence of a DMD mutation without weakness or loss of function
  • Subject is amenable to or is currently being treated with eteplirsen
  • Symptoms or signs of cardiomyopathy, including:
  • Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs
  • 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 PI creates unnecessary risks for gene transfer
  • Subjects with rAAVrh74 binding antibody titers ≥ 1:50 as determined by ELISA immunoassay
  • Presence of circulating anti-Sda antibodies as determined by study approved laboratory
  • Abnormal laboratory values in the clinically significant range, based upon normal values in the Nationwide Children's Hospital Laboratory
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT03333590). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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