A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease

NCT06092034 · tracked via the Priya Life Science Italy tracker

Sponsor

Rocket Pharmaceuticals Inc

Phase

Phase 2

Started

2023-09-05

Last updated

2026-10-06

Condition(s) studied

Danon Disease

Investigational drug(s) / intervention(s)

RP-A501

RP-A501: RP-A501 is a gene therapy product consisting of an rAAV9 capsid containing the human LAMP2B transgene which will be administered as a single IV infusion. Dose of RP-A501: Cohorts 1, 2 \& 3 = 6.7 x10\^13 genome copies (GC)/kg; Cohort 4 = 3.8 x10\^13 GC/kg. An immunomodulation regimen is initiated before RP-A501 administration to reduce the risk of gene therapy-related complications. The regimen includes rituximab or a biosimilar, administered in two doses for Cohorts 1-3 and three doses for Cohort 4, along with sirolimus and corticosteroids. Pegcetacoplan was incorporated into the immunomodulation regimen for Cohort 3 but excluded in Cohort 4.

Study summary

This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (rAAV9) vector containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene, in male patients with Danon disease.

Eligibility

Sex

MALE

Min age

8 Years

Max age

—

Healthy volunteers

Key Inclusion Criteria: 1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene. 2. Male. 3. Age ≥8 years. 4. Evidence of left ventricular hypertrophy with preserved systolic function phenotype as defined by each of the following: 1. Abnormal thickening of left ventricular wall, 2. Left ventricular ejection fraction (LVEF) ≥ 50%. 5. New York Heart Association (NYHA) Class II to III. 6. High sensitivity Troponin I (hsTnI) ≥20% above the upper limit of normal (ULN) ≤ 12 months prior to screening. 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. Severe heart failure or requirement for advanced therapies (requirement for intravenous inotropic, vasodilator, or diuretic therapy within the 30 days prior to enrollment, presence or requirement for mechanical circulatory support (MCS), and presence or requirement for mechanical ventilation). 3. History of intracardiac thrombosis or arterial thromboembolic events including stroke, transient ischemic attack (TIA), acute coronary syndrome, myocardial infarction or unstable angina. 4. Prior cardiac or other organ (lung, liver, other) transplantation.

Primary outcome measure(s)

Evaluation of Efficacy: Improvement as assessed via primary endpoint comprised of LAMP2 myocardial tissue expression and left ventricular mass index (LVMI) — 12 months post-infusion
Myocardial tissue expression of LAMP2 protein improved from baseline to ≥ Grade 1 (by IHC), AND, ≥ 10% decrease in LVMI from baseline.

Trial sites (6)

Facility	City	Region	Status
University of California, San Diego	La Jolla	California	Recruiting
Boston Children's Hospital	Boston	Massachusetts	Recruiting
Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	Recruiting
German Heart Center Munich	Munich	Germany	Recruiting
Meyer Children's Hospital	Florence	Italy	Recruiting
Great Ormond Street Hospital & UCL Institute of Cardiovascular Science	London	United Kingdom	Recruiting

More Rocket Pharmaceuticals Inc. trials in Italy

Danon Disease Natural History Study Recruiting

Other trials for the same condition

Danon Disease Natural History Study Recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06092034 on ClinicalTrials.gov ↗ ← All trials in Italy