Danon Disease
Conditions
Keywords
Danon Disease, LAMP2, Lysosome-associated membrane protein 2, Cardiomyopathy, X-linked
Brief summary
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
Detailed description
This is an international observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of Danon disease, a rare X-linked genetic disorder, and one of the most severe and penetrant forms of inherited cardiomyopathy. This study will collect data about the clinical course of Danon disease, including signs and symptoms, key clinical events, and the impact of the disease on quality of life as managed with the current standard of care. A hybrid (retrospective and prospective data collection) approach is being used to generate robust and longitudinal data. A subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.
Interventions
OTHERNo intervention
No intervention
Sponsors
Rocket Pharmaceuticals Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
8 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Prospective Cohort: 1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory 2. Patient or parent/legal guardian are capable and willing to provide signed informed consent 3. Age ≥ 8 years at enrollment Female Prospective Cohort: 4. Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment. Retrospective (only) Cohort: 5. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory 6. Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations 7. Age ≥ 8 years at enrollment 8. Prior cardiac transplantation or prior mechanical circulatory support 9. At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support Female Retrospective (only) Cohort: 10. Prior evidence of left ventricular hypertrophy. Key
Exclusion criteria
All Cohorts: 1. Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study 2. Previous treatment with a gene therapy Prospective Cohort: 3. Prior mechanical circulatory support at time of enrollment to this study 4. Prior cardiac transplantation at time of enrollment to this study Female patients: 5. Age \>51 years at enrollment
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Left Ventricular Mass Index (LVMI) by echocardiogram | Month 12, 24, 36 | Evaluation of change over duration of follow up |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Cardiac biomarkers (hsTnI) | Month 12, 24, 36 (when available) | Evaluation of change over duration of follow up |
| Cardiac biomarkers (NT-proBNP, BNP) | Month 12, 24, 36 (when available) | Evaluation of change over duration of follow up |
| NYHA class | Month 12, 24, 36 | Evaluation of change over duration of follow up |
| KCCQ-12 | Month 12, 24, 36 | Evaluation of change over duration of follow up |
| PedsQL | Month 12, 24, 36 | Evaluation of change over duration of follow up |
| Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization | Month 12, 24, 36 | Evaluation over duration of follow up |
| Six Minute Walk Test | Month 12, 24, 36 | This test measures the distance that a subject can quickly walk on a flat, hard surface in a period of 6 minutes. |
| CBC | At enrollment | CBC with differential |
| Serum Chemistry | At enrollment | Electrolytes |
| ECG | Month 12, 24, 36 | Twelve-lead ECGs are relevant to describe changes in cardiac rhythm that may further contextualize the clinical events/endpointsevents/endpoints |
| Serum chemistry | At enrollment | Creatinine |
| Anti-AAV9 titer | Month 12, 24, 36 | Change in antibody assay findings over time |
Countries
Germany, Israel, Italy, Spain, United Kingdom, United States
Contacts
CONTACTClinical Information
Outcome results
None listed