Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease

What this Trial Is About

Melorheostosis is a rare bone disease that causes excessive thickening of bones, leading to pain and affecting bones, joints, and muscles. Researchers are studying the natural history and causes of this disease, aiming to understand how it progresses and to identify biomarkers and medications that may influence it. This observational study focuses on adults with melorheostosis as well as their unaffected relatives to gain insights into the disease's biology and progression. Participants include adults with possible or confirmed melorheostosis and their relatives who may take part for genetic testing. Those with melorheostosis will undergo a detailed evaluation including medical history, physical exams, blood and urine collection, strength and mobility tests, imaging like X-rays, scans, bone densitometry, and bone scans. Additional procedures may include nerve conduction studies, electromyography, ultrasounds, skin evaluations and biopsies, and quality of life questionnaires. Relatives will provide blood or cheek cell samples for genetic testing. Participants will be involved in an initial week-long evaluation and then asked to return approximately every two years for follow-up visits. During these visits, blood and urine tests and imaging may be repeated to monitor disease progression and outcomes. The primary outcome is tracking how the disease progresses over time. This study is sponsored by the National Institute of Arthritis and Musculoskeletal and Skin Diseases and aims to provide a clearer understanding of melorheostosis to improve future care and treatment options.

Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease