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Danon Disease clinical trials at UCSD

2 in progress, 1 open to eligible people

Showing trials for
  • The Natural History of Danon Disease

    open to eligible people ages 0-100

    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.

    San Diego, California

  • Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B

    Sorry, in progress, not accepting new patients

    This is a non-randomized open-label Phase 1 study to evaluate the safety and toxicity of gene therapy using a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene (investigational product (IP), RP-A501) in male patients with Danon Disease (DD).

    La Jolla, California and other locations

Our lead scientists for Danon Disease research studies include .

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