The Natural History of Danon Disease

Danon Disease Clinical Trial

Official title:

The Natural History of Danon Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03766386
• Other study ID #: 170727
• Status: Recruiting
• Start date: November 30, 2018
• Est. completion date: November 2024

Study information

• Verified date: May 2022
• Source: University of California, San Diego
• Contact: Eric Adler, MD
• Phone: 8582462996
• Email: eradler[@]ucsd.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene. There is still uncertainty regarding the natural history of DD because of its rarity.

This study aims to determine the natural history of DD through the collection and analysis of retrospective and prospective data. To achieve this, the investigators will perform surveys and obtain medical records from DD patients. The same cohort of patients will also be assessed by a multidisciplinary team with expertise in DD (cardiologist, neurologist, ophthalmologist, psychologist, geneticist) at the University of California, San Diego. All patients with DD are eligible, including those who underwent a heart transplant. Additionally, data and records from deceased patients will provide valuable retrospective data for this study.

Description:

The study design will include:

1. Collection of information for all patients from:

• Survey of patient or caregiver (if the patient has deceased)

• Medical Charts

2. Collection of information from living patients assessed by the multidisciplinary team at the University of California, San Diego including:

• A complete medical history and physical examination

• Cardiac Testing (Electrocardiography; Echocardiography; Cardiac magnetic resonance imaging with gadolinium contrast agent-gadolinium contrast is optional-; Cardiopulmonary Test)

• Pulmonary function testing (PFT)

• Neuromuscular Assessment

• Cognitive Tests

• Vision exam including retinal evaluation

• Laboratory Tests

• Questionnaires on Quality of life

• Needle Skeletal muscle biopsy (only for patients over 18 years old)

• Abdominal Ultrasound for assessment of the liver structure

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: November 2024
• Est. primary completion date: November 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 100 Years

Eligibility

Inclusion Criteria:

• Living or deceased patients with a diagnosis of Danon disease(including patients who may or may not have undergone heart transplantation) based on a genetic test positive for the LAMP2 mutation

Exclusion Criteria:

• Patients without a genetic test positive for a LAMP2 mutation

Related Conditions & MeSH terms

• Danon Disease

Locations

Country	Name	City	State
United States	University of California, San Diego	San Diego	California

Sponsors (2)

Lead Sponsor	Collaborator
University of California, San Diego	Rocket Pharmaceuticals Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Cardiac structure over time	Change of cardiac structure (wall thickness -mm) measured by cardiac ultrasound / cardiac magnetic resonance	6, 12, 18, 24, 30, 36 months