Actively Recruiting

Age: 18Years - 90Years
All Genders
NCT02504879

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

Led by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) · Updated on 2026-05-07

350

Participants Needed

1

Research Sites

776 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

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

Who Can Participate

Age: 18Years - 90Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults over 18 years old with suspected or confirmed melorheostosis
  • Both men and women of all ethnic and racial groups
  • Unaffected relatives of melorheostosis patients may join for genetic testing only
Not Eligible

You will not qualify if you...

  • Pregnant or breastfeeding women
  • Children under 18 years old
  • People with severe active infections or other serious health conditions as judged by the investigator
  • Individuals unable to give informed consent

AI-Screening

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Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

N

Nancy A Spencer

CONTACT

S

Sarthak Gupta, M.D.

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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