City Name, Ukraine

Danon Disease Natural History Study

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 which is 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 managed with current standard of care. A hybrid (retrospective and prospective data collection) approach is being taken with the aim of achieving robust and longitudinal data generation. Subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.

The Natural History of Danon Disease

The study design will include: 1. Collection of information for all patients from: - Survey of patient or caregiver (if the patient has deceased) - Medical Charts 2. Collection of information from living patients assessed by the multidisciplinary team at the University of California, San Diego including: - A complete medical history and physical examination - Cardiac Testing (Electrocardiography; Echocardiography; Cardiac magnetic resonance imaging with gadolinium contrast agent-gadolinium contrast is optional-; Cardiopulmonary Test) - Pulmonary function testing (PFT) - Neuromuscular Assessment - Cognitive Tests - Vision exam including retinal evaluation - Laboratory Tests - Questionnaires on Quality of life - Needle Skeletal muscle biopsy (only for patients over 18 years old) - Abdominal Ultrasound for assessment of the liver structure

Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.

Rare Glycogen Storage Diseases Natural History Study

The immediate goal of this research is to create a natural history database to collect information from individuals who have a rare GSD. A repository of clinical, laboratory, and biochemical information on individuals with a rare GSD will allow a more definitive description of the different subtypes to be developed, which will permit development of treatment strategies in the future. Duke will be the only site where this study takes place. However, since these are rare disorders, participants who receive care at other institutions will be included. The investigators will collect retrospective data from patient charts on diagnosed individuals, as far back as necessary to capture the clinical course of their disorder. Prospective data collected from patient charts after enrollment will be captured as well. Participant's medical records will be continually reviewed for the duration of the study. Data will be collected from medical records and will only pertain to clinically relevant information, including, but not limited to: demographic and diagnostic information, tissue biopsy results, medical and family history, review of systems, imaging studies, results of liver, muscle, and nerve function testing, and urine and blood laboratory results.

Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases