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

Recruitingn/aAges 18 Years - 90 YearsAllNational Institute of Arthritis and Musculoskelet…
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In plain words

What the trial is, and whether it could suit you

Background: \- The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses. Objective: -To see what happens to people with melorheostosis over time and understand the causes of the disease. Eligibility: * People 18 and over with melorheostosis. * Their unaffected relatives. Design: * All participants will have a medical history and physical exam. * Participants who are relatives will give samples of blood or cheek cells. * Other participants will be in the study for about 1 week. * They will have blood and urine collected. * Strength, walking, and range of motion will be measured. * Participants may also have * X-rays and scans. * A pain and neurological evaluation. * Their skin evaluated by a dermatologist. * A small sample of bone taken. * Nerve c

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📋 Eligibility rules (as published)
* INCLUSION CRITERIA: All eligible patients are invited to participate in this protocol. Patients are adults aged \> 18 years with possible melorheostosis (suspected or confirmed). Since both men and women are affected with the disease, both sexes will be studied. All ethnic and racial groups are at risk and will be included. Relatives of patients with melorheostosis may be included for genetic testing only. EXCLUSION CRITERIA: * Pregnant or lactating women. A pregnancy test is performed in women of childbearing potential (up to age 55) unless they have a history of hysterectomy or tubal ligation. * Children (age less than 18 years) are excluded. * Subjects with severe active infection or other co-morbidities that in the opinion of the investigator would warrant exclusion. * Subjects unable to provide informed consent.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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