Overview
This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene, in male patients with Danon Disease.
Description
The study is a single arm Phase 2 clinical trial to characterize the safety and efficacy of RP-A501, a recombinant adeno-associated serotype 9 (rAAV9 capsid containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene) in male patients with Danon Disease.
Male subjects ≥8 years of age will receive a single intravenous infusion of RP-A501.
Eligibility
Key Inclusion Criteria:
- Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene.
- Male.
- Age ≥8 years.
- Evidence of left ventricular hypertrophy with preserved systolic function phenotype as defined by each of the following:
- Abnormal thickening of Left ventricular wall,
- Left ventricular ejection fraction (LVEF) ≥ 50%.
- New York Heart Association (NYHA) Class II to III.
- High sensitivity Troponin I (hsTnI) ≥20% above the upper limit of normal (ULN)
- Ability to comply with study procedures including investigational therapy and follow-up evaluations.
Key Exclusion Criteria:
- Anti-AAV9 neutralizing antibody titer \>1:40.
- Severe heart failure or requirement for advanced therapies.
- History of intracardiac thrombosis or arterial thromboembolic events including stroke, transient ischemic attack (TIA), acute coronary syndrome, myocardial infarction or unstable angina.
- Prior cardiac or other organ (lung, liver, other) transplantation.