A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: RP-A501.
- Who it may be relevant to
- Registry conditions: Danon Disease. Basic parameters: from 8 years · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Germany, Italy, United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
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
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.
Detailed 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.
Interventions
- Genetic RP-A501
RP-A501 is a gene therapy product consisting of a rAAV9 capsid containing the human LAMP2B transgene which will be administered as a single IV infusion.
Primary outcome measures
- Evaluation of efficacy via primary endpoint comprised of LAMP2 myocardial tissue expression and left ventricular mass index [Time frame: 12 Months post-infusion]
Secondary outcome measures (6)
- Evaluation of efficacy via components of the primary endpoint - LAMP2 [Time frame: 12 months post infusion]
- Evaluation of efficacy via components of the primary endpoint - Left Ventricular Mass Index (LVMI) [Time frame: 12 months post infusion]
- Evaluation of efficacy via biomarker evidence of myocardial injury - High Sensitivity Troponin I (hsTnI) [Time frame: 12 months post infusion]
- Evaluation of efficacy via biomarker evidence of myocardial injury - N-Terminal Prohormone of Brain Natriuretic Peptide (NT-proBNP) [Time frame: 12 months post infusion]
- Evaluation of efficacy via assessment of event-free survival [Time frame: 60 months post infusion]
- Evaluation of safety [Time frame: 60 months post infusion]
Eligibility criteria
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.
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
United States · 3 centers
- University of California, San Diego — La Jolla
- Boston Children's Hospital — Boston
- Children's Hospital of Philadelphia — Philadelphia
Germany · 1 center
- German Heart Center Munich — Munich
Italy · 1 center
- Meyer Childrens Hospital — Florence
United Kingdom · 1 center
- Great Ormund Street Hospital & UCL Institute of Cardiovascular Science — London
Identifiers
NCT: NCT06092034 · RP-A501-0123 · LAMPLIGHT-2