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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 : May 12, 2022
Sponsor:
Collaborator:
Rocket Pharmaceuticals Inc.
Information provided by (Responsible Party):
Eric Adler, MD, University of California, San Diego

Study Description
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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.


Condition or disease
Danon Disease

Detailed Description:

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
Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Other
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 2024
Estimated Study Completion Date : November 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
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).


Outcome Measures
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Primary Outcome Measures :
  1. 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


Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   0 Years to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients diagnosed with Danon Disease (LAMP2 mutation) of any sex and any age.
Criteria

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

Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Eric Adler, MD 8582462996 eradler@ucsd.edu

Locations
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United States, California
University of California, San Diego Recruiting
San Diego, California, United States, 92122-5671
Contact: Eric Adler, MD       eradler@ucsd.edu   
Contact: Michela Brambatti, MD,MS       mbrambatti@ucsd.edu   
Sub-Investigator: Michela Brambatti, MD,MS         
Sponsors and Collaborators
University of California, San Diego
Rocket Pharmaceuticals Inc.
More Information
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Additional Information:

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Responsible Party: Eric Adler, MD, Professor of Medicine, University of California, San Diego
ClinicalTrials.gov Identifier: NCT03766386    
Other Study ID Numbers: 170727
First Posted: December 6, 2018    Key Record Dates
Last Update Posted: May 12, 2022
Last Verified: May 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Glycogen Storage Disease Type IIb
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Cardiomyopathies
Heart Diseases
 Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases