Actively Recruiting
An Observational Study of Genetic Cardiomyopathy, Danon Disease
Led by Rocket Pharmaceuticals Inc. · Updated on 2026-05-05
60
Participants Needed
13
Research Sites
12 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting an international observational study to understand the natural history of Danon disease, a rare and severe genetic heart condition caused by mutations in the LAMP2 gene. This study focuses on male patients aged 8 years and older and female patients aged 8 to 50 years. The goal is to gather detailed information on the disease's clinical course, symptoms, key events, and quality of life impact under current standard care. The study uses both retrospective and prospective data collection to build a comprehensive and long-term dataset. Participants are grouped into prospective and retrospective cohorts, with females in the prospective group requiring recent evidence of heart muscle thickening. No interventions are given, as the study observes natural disease progression. Some participants will serve as an external control group for comparison with another related trial. Participants will undergo regular assessments including heart imaging (echocardiograms), blood tests for cardiac biomarkers, ECGs, and physical function tests at 12, 24, and 36 months. Quality of life and heart failure status are also evaluated through questionnaires and clinical classifications. Researchers will monitor key outcomes like heart muscle mass, cardiac events, and survival. The study collects baseline labs and tracks anti-AAV9 antibody levels while following patients over years to better understand disease progression.
CONDITIONS
Brief Title
Danon Disease Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a certified genetic testing laboratory
- Patient or parent/legal guardian able and willing to provide signed informed consent
- Age 8 years or older at enrollment
- For female prospective participants, evidence of left ventricular hypertrophy within 12 months before or at enrollment
- For retrospective cohort, prior cardiac transplantation or mechanical circulatory support with at least 30 days of medical records before these events
- For female retrospective participants, prior evidence of left ventricular hypertrophy
You will not qualify if you...
- Concurrent enrollment in another clinical trial involving investigational agents that could interfere with this study
- Previous treatment with gene therapy
- For prospective cohort, prior mechanical circulatory support or cardiac transplantation at enrollment
- Female patients older than 51 years at enrollment
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 36 months
Participants undergo assessments including cardiac imaging and biomarker testing to evaluate the clinical course of Danon disease.
Visits at Month 12, 24, and 36
Duration - Up to 36 months
Participants are observed to collect data on disease progression and clinical events under standard care.
Ongoing data collection throughout study period
Trial Site Locations
Total: 13 locations
1
Phoenix Children's Hospital
Phoenix, Arizona, United States, 85016
Actively Recruiting
2
University of California, San Diego
La Jolla, California, United States, 92037
Actively Recruiting
3
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
4
University of Florida College of Medicine
Gainesville, Florida, United States, 32610
Actively Recruiting
5
University of Michigan
Ann Arbor, Michigan, United States, 48109
Actively Recruiting
6
Washington University
St Louis, Missouri, United States, 63110
Actively Recruiting
7
Columbia University Medical Center/New York Presbyterian
New York, New York, United States, 10032
Actively Recruiting
8
Texas Children's Hospital
Houston, Texas, United States, 77030
Actively Recruiting
9
German Heart Center Munich
München, Germany
Actively Recruiting
10
Sheba Medical Center
Ramat Gan, Israel, 5265601
Actively Recruiting
11
Azienda Ospedaliera Universitaria Meyer IRCCS
Florence, Italy, 50139
Actively Recruiting
12
Hospital Universitario Puerta de Hierro Majadahonda
Majadahonda, Madrid, Spain
Actively Recruiting
13
University College London - Great Ormond Street Institute of Child Health
London, United Kingdom, WC1N 1DZ
Actively Recruiting
Research Team
C
Clinical Information
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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