Summary

for people ages up to 100 years (full criteria)
at UCSD
study started
estimated completion
Eric Adler, MD (ucsd)

Description

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.

Details

The study design will include:

  1. Collection of information for all patients from:
  2. Survey of patient or caregiver (if the patient has deceased)
  3. Medical Charts
  4. Collection of information from living patients assessed by the multidisciplinary team at the University of California, San Diego including:
  5. A complete medical history and physical examination
  6. Cardiac Testing (Electrocardiography; Echocardiography; Cardiac magnetic resonance imaging with gadolinium contrast agent-gadolinium contrast is optional-; Cardiopulmonary Test)
  7. Pulmonary function testing (PFT)
  8. Neuromuscular Assessment
  9. Cognitive Tests
  10. Vision exam including retinal evaluation
  11. Laboratory Tests
  12. Questionnaires on Quality of life
  13. Needle Skeletal muscle biopsy (only for patients over 18 years old)
  14. Abdominal Ultrasound for assessment of the liver structure

Keywords

Danon Disease Glycogen Storage Disease Type IIb

Eligibility

You can join if…

Open to people ages up to 100 years

• 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 CAN'T join if...

• Patients without a genetic test positive for a LAMP2 mutation

Location

  • University of California, San Diego accepting new patients
    San Diego California 92122-5671 United States

Lead Scientist

  • Eric Adler, MD (ucsd)
    Clinical Professor, Medicine. Authored (or co-authored) 47 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Diego
ID
NCT03766386
Study Type
Observational [Patient Registry]
Last Updated