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).
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.
Study Type
OBSERVATIONAL
Enrollment
60
No intervention
Phoenix Children's Hospital
Phoenix, Arizona, United States
RECRUITINGUniversity of California, San Diego
La Jolla, California, United States
Left Ventricular Mass Index (LVMI) by echocardiogram
Evaluation of change over duration of follow up
Time frame: Month 12, 24, 36
Cardiac biomarkers (hsTnI)
Evaluation of change over duration of follow up
Time frame: Month 12, 24, 36 (when available)
Cardiac biomarkers (NT-proBNP, BNP)
Evaluation of change over duration of follow up
Time frame: Month 12, 24, 36 (when available)
NYHA class
Evaluation of change over duration of follow up
Time frame: Month 12, 24, 36
KCCQ-12
Evaluation of change over duration of follow up
Time frame: Month 12, 24, 36
PedsQL
Evaluation of change over duration of follow up
Time frame: Month 12, 24, 36
Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization
Evaluation over duration of follow up
Time frame: Month 12, 24, 36
Six Minute Walk Test
This test measures the distance that a subject can quickly walk on a flat, hard surface in a period of 6 minutes.
Time frame: Month 12, 24, 36
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Children's Hospital Colorado
Aurora, Colorado, United States
RECRUITINGUniversity of Florida College of Medicine
Gainesville, Florida, United States
RECRUITINGUniversity of Michigan
Ann Arbor, Michigan, United States
RECRUITINGWashington University
St Louis, Missouri, United States
RECRUITINGColumbia University Medical Center/New York Presbyterian
New York, New York, United States
RECRUITINGTexas Children's Hospital
Houston, Texas, United States
RECRUITINGGerman Heart Center Munich
München, Germany
RECRUITINGSheba Medical Center
Ramat Gan, Israel
RECRUITING...and 3 more locations
CBC
CBC with differential
Time frame: At enrollment
Serum Chemistry
Electrolytes
Time frame: At enrollment
ECG
Twelve-lead ECGs are relevant to describe changes in cardiac rhythm that may further contextualize the clinical events/endpointsevents/endpoints
Time frame: Month 12, 24, 36
Serum chemistry
Creatinine
Time frame: At enrollment
Serum chemistry
LDH
Time frame: At enrollment
Serum chemistry
BUN
Time frame: At enrollment
Serum chemistry
eGFR
Time frame: At enrollment
Serum chemistry
LFT
Time frame: At enrollment
Anti-AAV9 titer
Change in antibody assay findings over time
Time frame: Month 12, 24, 36