Observing the natural history of 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 international observational study aims to understand the natural history of Danon disease in male patients over 8 years old and female patients under 30. It will assess changes over time in cardiac structure, biomarkers, symptoms, and quality of life, as well as the incidence of clinical events like heart failure hospitalization and cardiac transplantation. The study employs both retrospective and prospective data collection to generate robust longitudinal data on this rare genetic disorder. A subset of patients will serve as an External Control Arm for comparison with participants in another trial.

Why it matters

Who can join: the full rules

Prospective Cohort:

1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
2. Patient or parent/legal guardian are capable and willing to provide signed informed consent
3. Age ≥ 8 years at enrollment

   Female Prospective Cohort:
4. Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment.

   Retrospective (only) Cohort:
5. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
6. Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations
7. Age ≥ 8 years at enrollment
8. Prior cardiac transplantation or prior mechanical circulatory support
9. At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support

   Female Retrospective (only) Cohort:
10. Prior evidence of left ventricular hypertrophy.

Key Exclusion Criteria:

All Cohorts:

1. Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study
2. Previous treatment with a gene therapy

   Prospective Cohort:
3. Prior mechanical circulatory support at time of enrollment to this study
4. Prior cardiac transplantation at time of enrollment to this study

   Female patients:
5. Age \>51 years at enrollment

Where it's running

• Phoenix Children's Hospital
  Phoenix, Arizona, United States Recruiting
• University of California, San Diego
  La Jolla, California, United States Recruiting
• Children's Hospital Colorado
  Aurora, Colorado, United States Recruiting
• University of Florida College of Medicine
  Gainesville, Florida, United States Recruiting
• University of Michigan
  Ann Arbor, Michigan, United States Recruiting
• Washington University
  St Louis, Missouri, United States Recruiting

Study contacts

• 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

  This study is collecting health information from people with rare glycogen storage diseases to better understand their conditions and help improve future treatments.

  Recruiting Duke University · Durham, North Carolina · NCT06795152

• RP-A501 gene therapy for males with Danon disease

  This gives a single IV dose of RP-A501 gene therapy to males aged 8 and older with Danon disease to see if it improves heart structure and symptoms.

  Recruiting at 6 sites Phase 2 Rocket Pharmaceuticals Inc. · La Jolla, California and 5 other locations · NCT06092034

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.