The Natural History of Danon Disease

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.

Study Overview

• Status: Recruiting
• Conditions: 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 Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

• Study Contact: Name: Eric Adler, MD; Phone Number: 8582462996; Email: eradler@ucsd.edu

Study Locations

• United States
  • California
    • San Diego, California, United States, 92122-5671
      • Recruiting
      • University of California, San Diego
      • Contact: Eric Adler, MD; Email: eradler@ucsd.edu
      • Contact: Michela Brambatti, MD,MS; Email: mbrambatti@ucsd.edu
      • Sub-Investigator: Michela Brambatti, MD,MS

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with Danon Disease (LAMP2 mutation) of any sex and any age.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

2

Cohorts and Interventions

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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Cardiac structure over time	Change of cardiac structure (wall thickness -mm) measured by cardiac ultrasound / cardiac magnetic resonance	6, 12, 18, 24, 30, 36 months

Collaborators and Investigators

• Sponsor: University of California, San Diego
• Collaborators: Rocket Pharmaceuticals Inc.

Study record dates

Study Major Dates

• Study Start (Actual): November 30, 2018
• Primary Completion (Anticipated): November 1, 2024
• Study Completion (Anticipated): November 1, 2024

Study Registration Dates

• First Submitted: November 30, 2018
• First Submitted That Met QC Criteria: December 4, 2018
• First Posted (Actual): December 6, 2018

Study Record Updates

• Last Update Posted (Actual): May 12, 2022
• Last Update Submitted That Met QC Criteria: May 11, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Metabolic Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Mental Retardation, X-Linked; Intellectual Disability; Cardiomyopathies; Glycogen Storage Disease; Glycogen Storage Disease Type IIb
• Other Study ID Numbers: 170727

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No