Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B (NCT03882437) | Clinical Trial Compass
UnknownPhase 1
Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B
United States7 participantsStarted 2019-04-17
Plain-language summary
This is a non-randomized open-label Phase 1 study to evaluate the safety and toxicity of gene therapy using a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene (investigational product (IP), RP-A501) in male patients with Danon Disease (DD).
Who can participate
Age range
8 Years
Sex
MALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. DD diagnosis with any confirmed LAMP2 mutation(s).
. Cardiac involvement as documented by at least one abnormal finding on electrocardiogram (ECG), echocardiogram, gadolinium-enhanced cardiac magnetic resonance imaging (MRI), or electrophysiology study.
. Age ≥15 years for cohorts 1 and 2; 8-14 years for cohorts 1A.
. Male gender.
. New York Heart Association (NYHA) Class II or III.
. Adequate hematologic function as defined by hemoglobin, absolute neutrophil count (ANC), and platelet count ≥ lower limit of normal (LLN).
. Adequate hepatic function as defined by:
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Number of participants with treatment-related adverse events as assessed by United States (US) National Cancer Institute Common Terminology Criteria (NCI CTCAE)
Timeframe: 3 years
2
Number of participants within each dose level cohort with treatment-related adverse events as assessed by United States (US) National Cancer Institute Common Terminology Criteria (NCI CTCAE)
Timeframe: 3 years
3
Evaluation of cardiomyocyte histologic correction following administration of RP-A501 via endomyocardial biopsy
Timeframe: 3 years
4
Preliminary evaluation of clinical stabilization of cardiomyopathy following administration of RP-A501 via cardiopulmonary testing
. AST and ALT ≤10.0×ULN or GGT ≤2.0×ULN (transaminase elevations in DD are considered extensively to result from muscle injury; hence the relatively high upper limit for transaminases and consideration of GGT level, and the presence of additional hepatic eligibility markers of bilirubin and PT/INR).
Exclusion criteria
. I.V. therapy with positive inotropes, vasodilators, or diuretics within the 30 days prior to enrollment (i.e., patient must be stable on oral medical therapy).
. Prior cardiac transplantation or prior transplant of other organ (lung, liver, other).
. Prior cardiac surgery and/or percutaneous cardiac intervention for arteriothrombotic complications, or valvuloplasty.
. Presence or requirement of a Left Ventricular Assisted Device (LVAD).
. History of intracardiac thrombosis or arteriothromboembolic events including stroke or transient ischemic attack (TIA).
. Left ventricular ejection fraction (LVEF) \<40% at baseline.
. History of the following prior arteriothromboembolic complications: myocardial infarction or unstable angina.
. Significant (greater than moderate) valvular stenosis or regurgitation on echocardiogram.