Danon Disease

Danon disease is a rare X-linked dominant lysosomal storage disorder characterized by a triad of cardiomyopathy, skeletal myopathy, and intellectual disability. First described by Dr. Moris Danon in 1981, the condition predominantly affects males, presenting with early-onset severe symptoms, while females often exhibit a milder phenotype with later onset. Recent advancements in genetic research and therapeutic interventions over the past five years have significantly enhanced our understanding and management of this complex disorder.

> View the full Danon Disease Clinical Update

ClinicalTrials.gov ID NCT03766386
Last known status: Recruiting

Study Overview
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.

ClinicalTrials.gov ID NCT03882437
Last known status: Active, not recruiting

Study Overview
The study is a single arm Phase 2 clinical trial to characterize the safety and efficacy of RP-A501, a recombinant adeno-associated serotype 9 (rAAV9 capsid containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene) in male patients with Danon Disease. Male subjects ≥8 years of age will receive a single intravenous infusion of RP-A501.

Some multidisciplinary care centers focus on the care and treatment of children. Click here to find children's multidisciplinary care centers by searching for university or research hospitals in your area.