Prospective Study on the Natural History of RYR1-Related Disorders Tracking Disease Progression and Symptoms Over 3 to 5 Years

What this Trial Is About

This research aims to better understand Ryanodine Receptor 1-related disorders RYR1-RD, a group of rare genetic muscle diseases that affect both children and adults. These disorders often cause muscle weakness and progress slowly over time. The study is observational and seeks to gather detailed information about the signs, symptoms, and progression of these conditions to improve knowledge and support future clinical trials. Participants who can walk will visit the Clinical Center once a year for up to five years, with each visit lasting two to three days. Those who cannot walk will participate through telehealth visits once a year for the same duration. During these visits, researchers will collect various data including photos, videos, blood and urine samples, and activity tracking with wearable devices. Additional tests for those attending in person include heart and lung function assessments, motor skills and strength evaluations, imaging scans, eye exams, and optional skin biopsies for adults. Throughout the study, participants will complete questionnaires about their health, pain, fatigue, stress, and quality of life. Researchers will monitor changes in muscle function, lung capacity, and patient-reported outcomes over three and five years. The study also includes exploratory biomarker research and uses multiple clinical assessments to track disease progression. The total involvement time varies but includes annual visits over three to five years, with some participants attending in person and others remotely.

A Natural History Study of RYR1-Related Disorders