Gene Therapy for Male Patients With Danon Disease Using RP-A501; AAV9.LAMP2B

  • End date
    Apr 23, 2023
  • participants needed
  • sponsor
    Rocket Pharmaceuticals Inc.
Updated on 23 January 2021


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).


The study is a non-randomized open-label Phase I clinical trial to characterize the safety and toxicity associated with infusion of a recombinant adeno-associated serotype 9 (rAAV9) capsid containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene (investigational product (IP), RP-A501) in male patients with Danon Disease (DD).

During the course of the study, approximately 12-24 subjects will receive a single intravenous (IV) infusion of the IP, with up to 4 specific cohorts receiving RP-A501 at sequentially higher dose levels. Two dose levels are planned to be investigated in 4 distinct

  • Cohort 1: Age 15 years and older: Low Dose (n=3-6 subjects)
  • Cohort 2: Age 15 years and older: High Dose (n=3-6 subjects)
  • Cohort 3: Age 8-14 years: Low Dose (n=3-6 subjects)
  • Cohort 4: Age 8-14 years: High Dose (n=3-6 subjects)

Pending determination of safety in Cohort I, concomitant enrollment in Cohorts 2 and 3 is permissible.

The study will also enable an initial evaluation of whether or not the investigational therapy results in cardiomyocyte and skeletal muscle transduction and gene expression and preliminary assessment of the extent of cardiomyocyte and histologic correction. Additionally, a preliminary evaluation of clinical stabilization following infusion will also be made.

Condition Danon Disease, Cardiomyopathy
Treatment RP-A501
Clinical Study IdentifierNCT03882437
SponsorRocket Pharmaceuticals Inc.
Last Modified on23 January 2021


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Inclusion Criteria

Is your age greater than or equal to 8 yrs?
Are you male?
Do you have Danon Disease?
Do you have any of these conditions: Danon Disease or Cardiomyopathy?
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 3 and 4
Male gender
New York Heart Association (NYHA) Class of II or III. Patients with NYHA Class I are eligible if unable to walk 450 meters during the 6-Minute Walk Test (6MWT)
Adequate hematologic function as defined by
Hemoglobin 10 g/dL (6.2 mmol/L; Grade 1 anemia, per National Cancer Institute Common Terminology Criteria for Adverse Events (NCI CTCAE), version 5.0)
Absolute neutrophil count 1500/mm^3 (1.510^9/L; Grade 1 neutropenia)
Platelet count 75,000/mm^3 (7510^9/L; Grade 1 thrombocytopenia)
Hepatic function as defined by
AST and ALT 10ULN (transaminase elevations in DD are considered largely to result from muscle injury; hence the relatively high upper limit for these parameters, and the presence of additional hepatic eligibility markers of bilirubin and PT/INR)
Serum bilirubin 1.5ULN (i.e., Grade 1 bilirubin increase)
PT/INR 1.5ULN (in the absence of anticoagulation)
Absence of cirrhosis on liver ultrasound
Renal function as follows: creatinine 1.5ULN; (if creatinine is >1.5ULN, then creatinine clearance 50 mL/min/1.73m^2 is required, as calculated by Modification of Diet in Renal Disease equation (Stevens 2006), the revised Schwartz formula (for patients under 18 years old) (Schwartz 2009), or 24-hour urine collection)
Ability to provide informed consent (for adult patients and parents/legal guardians of pediatric patients) and assent (for patients age 15-17)
Ability to comply with study procedures including investigational therapy and follow-up evaluations
Able to walk >150 meters unassisted during the 6MWT
Patient has received meningococcal vaccination recommended by Centers for Disease Control as appropriate for age and health condition

Exclusion Criteria

IV 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)
Cardiac surgery, percutaneous cardiac intervention or valvuloplasty within 30 days prior to enrollment
Presence or requirement of a LVAD
Myocardial infarction, unstable angina, stroke or transient ischemic attack (TIA) within 90 days prior to enrollment
Significant (greater than moderate) valvular stenosis or regurgitation on echocardiogram
Requires mechanical ventilation
Anti-AAV9 neutralizing antibody titer >1:5
Concurrent enrollment in any other clinical investigation involving use of an investigational agent for the treatment of congestive heart failure or cardiomyopathy
Active hepatitis B or C infection (including patients with positive HBsAg, HBeAg or detectable HBV or HCV viral load). Patients with previous, adequately resolved HBV or HCV are eligible
Significant medical conditions including documented HIV infection, active viral or other hepatitis, poorly-controlled hypertension or diabetes, poorly controlled cardiac arrhythmia or uncontrolled viral, bacterial or fungal infection
Any concomitant medical or psychiatric condition that in the opinion of the investigator renders the patient unfit for study participation or at higher than acceptable risk for study participation
Active hematologic or solid organ malignancy, not including non-melanoma skin cancer or other carcinoma in situ. Patients with previously resected solid organ malignancies or definitively treated hematologic malignancies may be eligible if there has been no evidence of active malignancy during the prior 3 years
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