The Natural History of Danon Disease
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|ClinicalTrials.gov Identifier: NCT03766386|
Recruitment Status : Recruiting
First Posted : December 6, 2018
Last Update Posted : April 18, 2019
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.
|Condition or disease|
The study design will include:
Collection of information for all patients from:
- Survey of patient or caregiver (if the patient has deceased)
- Medical Charts
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
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||200 participants|
|Target Follow-Up Duration:||3 Years|
|Official Title:||The Natural History of Danon Disease|
|Actual Study Start Date :||November 30, 2018|
|Estimated Primary Completion Date :||November 2023|
|Estimated Study Completion Date :||November 2023|
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).
- Cardiac structure over time [ Time Frame: 6, 12, 18, 24, 30, 36 months ]Change of cardiac structure (wall thickness -mm) measured by cardiac ultrasound / cardiac magnetic resonance
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03766386
|Contact: Eric Adler, MDfirstname.lastname@example.org|