Gene Therapy for Danon Disease: A Phase 2 Study Evaluating the Efficacy and Safety of Intravenously Administered Adeno-Associated Virus Serotype 9 (rAAV9) Vector Containing the Human LAMP2 Isoform B Transgene (RP-A501; AAV9.LAMP2B) in Male Patients With Danon Disease

RP-A501-0123

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.

2023-09-05

2025-09-01

2029-09-01

Recruiting

Early phase I

12

Key Inclusion Criteria: 1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene. 2. Male gender. 3. Age ≥8 years. 4. Evidence of left ventricular hypertrophy with preserved systolic function phenotype as defined by each of the following: 1. For subjects \< 18 years, z-score of the left ventricular posterior wall or interventricular septum at end diastole ≥+ 2, and for subjects ≥18 years, left ventricular posterior wall or interventricular septum at end diastole \>13 mm (\>12 mm if family history of clinically significant Danon disease), 2. Left ventricular ejection fraction (LVEF) ≥ 50%. 5. New York Heart Association (NYHA) Class II to III. 6. hsTnI ≥20% above the ULN 7. Ability to comply with study procedures including investigational therapy and follow-up evaluations. Key Exclusion Criteria: 1. Anti-AAV9 neutralizing antibody titer \>1:40. 2. Intravenous inotropic, vasodilator, or diuretic therapy within the 30 days prior to enrollment. 3. Presence or requirement for mechanical circulatory support (MCS). 4. Presence or requirement for mechanical ventilation. 5. History of intracardiac thrombosis or arterial thromboembolic events including stroke, transient ischemic attack (TIA), acute coronary syndrome, myocardial infarction or unstable angina. 6. Prior cardiac or other organ (lung, liver, other) transplantation.

{'studyType': 'INTERVENTIONAL', 'phases': ['PHASE2'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'primaryPurpose': 'TREATMENT', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 12, 'type': 'ESTIMATED'}}

2023-10-23