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

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Study ID
NCT02504879
Status
Recruiting
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Conditions

  • Rheumatic Disease

Eligibility Criteria

Sex
ALL
Age
18 Years - 90 Years
Healthy Volunteers
Not accepted

Study Details

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 conduction studies. Small electrodes with to wires will be put on the skin. A metal probe will give a small electrical shock. * Electromyography. A thin needle will be placed into the muscles. * An ultrasound, which uses sound waves to examine the muscles and nerves. An ultrasound probe will be placed over the skin. * A bone scan. They will get a small amount of radioactive fluid through a needle in an arm vein. This fluid travels to the bones. The bones will be photographed in a machine. * Bone Densitometry, a low-level x-ray. * Photographs taken. * A small circle of skin removed with a surgical instrument. * Questionnaires about their quality of life. * Participants will be asked to return about every 2 years. At these visits, participants may have blood and urine tests and x-rays.

Key Dates

Start date
Aug 16, 2015
Status verified
Apr 2026
Primary completion
Jul 1, 2030
Completion
Jul 1, 2030

Study Design

Enrollment
350 participants (estimated)

Arms

  • Arm: Melorheostosis patients
    Patients aged \> 18 years with possible and confirmed melorheostosis.
  • Arm: Relatives of patients with melorheostosis
    Relatives of patients with melorheostosis may be included for genetic testing only.

Primary Outcome Measure

Disease progression [ Time Frame: end of the study ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892-

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National Institutes of Health Clinical Center· Bethesda, MD

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