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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 : April 18, 2019
Sponsor:
Collaborator:
Rocket Pharmaceuticals Inc.
Information provided by (Responsible Party):
Eric Adler, MD, University of California, San Diego

Tracking Information
First Submitted Date November 30, 2018
First Posted Date December 6, 2018
Last Update Posted Date April 18, 2019
Actual Study Start Date November 30, 2018
Estimated Primary Completion Date November 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 4, 2018)
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
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03766386 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title The Natural History of Danon Disease
Official Title The Natural History of Danon Disease
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.

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 Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration 3 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients diagnosed with Danon Disease (LAMP2 mutation) of any sex and any age.
Condition Danon Disease
Intervention Not Provided
Study Groups/Cohorts
  • 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).
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: December 4, 2018)
200
Original Estimated Enrollment Same as current
Estimated Study Completion Date November 2023
Estimated Primary Completion Date November 2023   (Final data collection date for primary outcome measure)
Eligibility 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

Sex/Gender
Sexes Eligible for Study: All
Ages up to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Eric Adler, MD 8582462996 eradler@ucsd.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03766386
Other Study ID Numbers 170727
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Eric Adler, MD, University of California, San Diego
Study Sponsor University of California, San Diego
Collaborators Rocket Pharmaceuticals Inc.
Investigators Not Provided
PRS Account University of California, San Diego
Verification Date April 2019