The Natural History of Danon Disease
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any - 100 |
| Updated: | 12/8/2018 |
| Start Date: | November 30, 2018 |
| End Date: | November 2023 |
| Contact: | Michela Brambatti, MD,MS |
| Email: | mbrambatti@ucsd.edu |
| Phone: | 8582462996 |
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.
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.
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
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
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
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