RP-A501 gene therapy for males with Danon disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This single-arm Phase 2 trial delivers RP-A501 — an rAAV9 vector carrying the LAMP2B gene — as a one-time intravenous infusion to male patients aged 8 and older with genetically confirmed Danon disease. Eligible participants have left ventricular hypertrophy with preserved systolic function (LVEF ≥50%), NYHA class II–III symptoms, and elevated hsTnI, while those with high anti-AAV9 neutralizing antibodies or severe heart failure are excluded. The trial will track safety and signals of efficacy using cardiac imaging, biomarkers, and clinical follow-up at scheduled visits. The study is sponsored by Rocket Pharmaceuticals and enrolls at UC San Diego (La Jolla), Boston Children's Hospital (Boston), and Children's Hospital of Philadelphia (Philadelphia).

Why it matters

Who can join: the full rules

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.

Where it's running

• University of California, San Diego
  La Jolla, California, United States Recruiting
• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting
• Children's Hospital of Philadelphia
  Philadelphia, Pennsylvania, United States 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

Study contacts

• Principal investigator: Joseph Rossano, MD — Children's Hospital of Philadelphia
• Study coordinator: Clinical Information
• Email: clinicaltrials@rocketpharma.com
• Phone: 646-627-0033

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies

  This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.

  Recruiting Chinese Academy of Medical Sciences, Fuwai Hospital · Beijing · NCT07336394

• Natural history study of rare glycogen storage diseases

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  Recruiting Duke University · Durham, North Carolina · NCT06795152

• Observing the natural history of Danon disease

  This study looks at how Danon disease affects boys over 8 and girls under 30 over time to see changes in their heart health, symptoms, and quality of life.

  Recruiting at 16 sites Rocket Pharmaceuticals Inc. · Phoenix, Arizona and 15 other locations · NCT06214507

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.