Heart failure & cardiomyopathies
Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease
Authors' conclusion
A single infusion of RP-A501 appeared to be safe and was associated with cardiac LAMP2 expression and evidence of clinical improvement over a period of 24 to 54 months.
Study context
- Population
- Male patients with Danon disease (5 aged ≥15 years, 2 aged 11–14 years)
- Participants
- 7 patients
- Outcome
- Safety and toxic effects of RP-A501, myocardial LAMP2 transduction and protein expression, stabilization/reduction in HF symptoms, stabilization/improvement in cardiac structure and function
Methodological detailssingle-group, interim data from long-term follow-up study
- Single-group
- Interim data from long-term follow-up study
Main finding
As reported in the abstract
Efficacy in 6 patients with normal LVEF at baseline · 24 to 54 months
- Cardiac LAMP2 protein expression
- Reduction from baseline in or stabilization of LV mass index
- Preservation of LVEF
- Reduction in or stabilization of cardiac troponin I and NT-proBNP
- All patients alive
- Interim data
Safety
Adverse events
- Complement-mediated thrombotic microangiopathy (grade 4) with thrombocytopenia and AKI
- 1
- Progressive HF with heart transplantation 5 months after infusion (LV systolic dysfunction at baseline)
- 1
- Glucocorticoid-related exacerbation (grade 3) of Danon skeletal myopathy
- Complete resolution of side effects at 24 to 54 months
Original publication
Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease. N Engl J Med. Published 18 November 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →