Danon Disease Natural History Study
Research type
Research Study
Full title
An Observational Study of Genetic Cardiomyopathy, Danon Disease
IRAS ID
339721
Contact name
Juan Kaski
Contact email
Sponsor organisation
Rocket Pharmaceuticals, Inc.
Clinicaltrials.gov Identifier
Clinicaltrials.gov Identifier
NCT06214507, Clinicaltrials.gov ID
Duration of Study in the UK
2 years, 4 months, 17 days
Research summary
Cardiomyopathies are rare, often genetically based conditions that can have devastating clinical effects. Rocket Pharmaceuticals is a clinical-stage company developing gene therapies in these disease areas, including hypertrophic, arrhythmogenic, and dilated cardiomyopathies. Danon disease is a rare X-linked dominant genetic disorder characterized by highly aggressive cardiomyopathy, more limited skeletal myopathy, and neurocognitive deficits. This disease is caused by a mutation in the lysosome associated membrane protein-2 gene (LAMP2).
This protein is critical for proper autophagosome-lysosome fusion, failure of which results in the accumulation of autophagic vacuoles and cardiomyocyte hypertrophy and necrosis. This leads to a rapidly progressive cardiomyopathy which results in significant morbidity and mortality. Most males and many females with LAMP2 gene mutations will develop cardiomyopathy and associated arrhythmias. The prognosis is directly related to the severity of the cardiac disease, and many patients will die from sudden cardiac death. Males are typically more severely affected than females. There is currently no therapy available to prevent disease progression. There are currently no specific therapies for Danon disease, and for male patients, survival beyond age 25 years is limited.
The current study is a multi-country, observational, non-interventional, longitudinal study with prospective and retrospective data collection that aims to describe the natural course of Danon disease progression. The cohort of patients in the study will provide data about Danon disease managed with available standard of care and thus, serve as an external comparator arm for the Phase 2 trial and provide important context to assess the efficacy of RP-A501 in patients enrolled in the Phase 2 trial.
REC name
South Central - Berkshire Research Ethics Committee
REC reference
24/SC/0094
Date of REC Opinion
6 Jun 2024
REC opinion
Further Information Favourable Opinion