An Observational Study of Genetic Cardiomyopathy, Danon Disease

Plain English Summary

Danon Disease Natural History Study is a Not Applicable clinical trial sponsored by Rocket Pharmaceuticals Inc. studying Danon Disease. This study aims to observe and understand Danon disease, a rare genetic disorder affecting the heart. It is for male patients aged 8 and older, and female patients aged 8 to 50, with a confirmed genetic cause for Danon disease. Participation involves regular medical check-ups and tests to track the disease's progression; no new treatments are being tested. Currently, there are no specific approved treatments for Danon disease, making natural history studies crucial for future development. The trial aims to enroll 60 participants.

Official Summary

The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).

Who Can Participate

Here is what you need to know about eligibility for this trial. You can join if you are a male aged 8 or older, or a female aged 8 to 50, with a confirmed genetic diagnosis of Danon disease (LAMP2 gene variant). Female participants must also show evidence of left ventricular hypertrophy (enlarged heart chamber) within the last year or at enrollment. You cannot join if you are currently in another study testing an investigational drug or have previously received gene therapy. For a retrospective part of the study, prior heart transplant or mechanical support is allowed, but you must have at least 30 days of medical records before these interventions. This trial is studying Danon Disease, so participants generally need a confirmed diagnosis. The trial is currently accepting new participants.

What They're Measuring

The primary outcome measures, like Left Ventricular Mass Index (LVMI), will help doctors track how the heart's size changes over time, providing insights into disease progression. The specific primary outcome measures are: Left Ventricular Mass Index (LVMI) by echocardiogram (Month 12, 24, 36). These endpoints are how researchers determine whether the treatment is effective and will form the basis of any future regulatory submissions.

About This Phase

This study does not have a traditional clinical phase designation. It may be an observational study that follows patients without intervening in their care, an expanded access or compassionate use program, or other non-interventional research. These studies contribute valuable data about disease progression, treatment patterns, and patient outcomes.

Why This Trial Matters

This study is important because Danon disease is rare and poorly understood, and gathering information on how it progresses naturally is vital for developing effective treatments. This research targets Danon Disease, where improved treatment options are needed.

Investor Insight

This observational study by Rocket Pharmaceuticals Inc. aims to build a foundational understanding of Danon disease, which could inform the development of future targeted therapies for this rare condi

Is This Trial Right for Me?

Ask your doctor about the specific tests involved and how often you will need to visit the study site. Be prepared for regular check-ups, including heart imaging (echocardiogram) and blood tests, to monitor your health over several years. Understand that this study is observational, meaning it focuses on learning about the disease, not testing a new treatment. This trial is currently recruiting participants. The trial is being conducted at 13 sites. Always discuss clinical trial participation with your healthcare provider before making any decisions. This information is for educational purposes only and is not medical advice.

AI-generated analysis for educational purposes only. This is not medical advice. Discuss clinical trial participation with your doctor. Data sourced from ClinicalTrials.gov.

Study Design

• Study Type: OBSERVATIONAL
• Enrollment: 60 participants

Interventions

• OTHER: No intervention — No intervention

Primary Outcomes

• Left Ventricular Mass Index (LVMI) by echocardiogram (Month 12, 24, 36)

Secondary Outcomes

• Cardiac biomarkers (hsTnI) (Month 12, 24, 36 (when available))
• Cardiac biomarkers (NT-proBNP, BNP) (Month 12, 24, 36 (when available))
• NYHA class (Month 12, 24, 36)
• KCCQ-12 (Month 12, 24, 36)
• PedsQL (Month 12, 24, 36)

Full Eligibility Criteria

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

Trial Locations

• Phoenix Children's Hospital, Phoenix, Arizona, United States
• University of California, San Diego, La Jolla, California, United States
• Children's Hospital Colorado, Aurora, Colorado, United States
• University of Florida College of Medicine, Gainesville, Florida, United States
• University of Michigan, Ann Arbor, Michigan, United States
• Washington University, St Louis, Missouri, United States
• Columbia University Medical Center/New York Presbyterian, New York, New York, United States
• Texas Children's Hospital, Houston, Texas, United States
• German Heart Center Munich, München, Germany
• Sheba Medical Center, Ramat Gan, Israel
• ...and 3 more locations

Frequently Asked Questions

Related Conditions

• Danon Disease
• Cardiomyopathy
• Genetic Disorders
• Lysosomal Storage Diseases
• Heart Failure
• Arrhythmia
• Sudden Cardiac Death
• X-linked Genetic Disorders
• Congenital Heart Defects
• Hypertrophic Cardiomyopathy

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