The Natural History of Danon Disease

NCT03766386 | Unknown

• 1 other identifier: 170727
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Danon Disease

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

Danon Disease Patients

Patients with a confirmed diagnosis of Danon disease who are currently alive (including patients who may or may not have undergone heart transplantation).

Deceased Danon Disease Patients

Patients with a confirmed diagnosis of Danon disease who are deceased (including patients who may or may not have undergone heart transplantation).

Eligibility Criteria

• Age: 0 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with Danon Disease (LAMP2 mutation) of any sex and any age.

You may qualify if:

• 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

You may not qualify if:

• Patients without a genetic test positive for a LAMP2 mutation

Sponsors & Collaborators

• University of California, San Diego: lead
• Rocket Pharmaceuticals Inc.: collaborator

Study Sites (1)

University of California, San Diego

San Diego, California, 92122-5671, United States

RECRUITING

Related Publications (1)

• Hong KN, Eshraghian E, Khedro T, Argiro A, Attias J, Storm G, Tsotras M, Bloks T, Jackson I, Ahmad E, Graw S, Mestroni L, Bui QM, Schwartz J, Turner S, Adler ED, Taylor M. An International Longitudinal Natural History Study of Patients With Danon Disease: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes. J Am Heart Assoc. 2025 Apr;14(7):e038394. doi: 10.1161/JAHA.124.038394. Epub 2025 Mar 21.

  PMID: 40118805 DERIVED

MeSH Terms

Conditions

Glycogen Storage Disease Type IIb

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Eric Adler, MD

CONTACT

8582462996; eradler@ucsd.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Medicine

Study Record Dates

• First Submitted: November 30, 2018
• First Posted: December 6, 2018
• Study Start: November 30, 2018
• Primary Completion: November 1, 2024
• Study Completion: November 1, 2024
• Last Updated: May 12, 2022

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)