Recruiting

Observational Study

Sponsor:

UCLA

Code:

NCT03766386

Conditions

Danon Disease

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT03766386

Start date

Nov 30, 2018

Status verified date

May, 2022

Completion date

Nov, 2024

Anticipated

Primary completion date

Nov, 2024

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Arms

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).

Primary outcome measure

  • Cardiac structure over time [ Time Frame: 6, 12, 18, 24, 30, 36 months ]

Central Contacts and Locations

Central contacts

Eric Adler, MD

8582462996eradler@ucsd.edu

Locations

University of California, San Diego

Recruiting

San Diego, California, United States, 92122-5671

Contacts

Eric Adler, MD

eradler@ucsd.edu

Michela Brambatti, MD,MS

mbrambatti@ucsd.edu

More Information

Sponsor

University of California, San Diego

Last update posted

May 12, 2022

Last verified

May, 2022

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of California, San Diego on 2022-05-12.