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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief Summary:

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 u

    Detailed Summary:

    Melorheostosis is a rare osteosclerotic disease resulting in exuberant excessive bone growth with a characteristic radiographic appearance often described as "dripping candle wax". As a result of these bony formations, patients report mild-moderate pain that interferes with their routine activities. It is usually diagnosed on radiographs but bone biopsy may be performed to exclude other osteosclerotic diseases and/or osteosarcoma. Deformities, limb-length discrepancy, muscle atrophy, neurological deficit have been reported as complications.

    The cause of this disease is not known, the natural history poorly described and there is no clearly-defined systemic therapy. We propose a prospective observational study to investigate the natural history and pathogenesis of the disease. Some subjects will undergo standardized initial evaluation and medically indicated testing. Affected tissue will be sent for genetic testing to pursue the hypothesis that melorheostosis results from acquired somatic mutations in genes that control bone homeostasis. Enrolled subjects will be followed on an annual or biannual basis for assessment of disease progression and receive clinically indicated testing and treatment. The study of this rare bone disease offers the potential to generate new insights, provide answers as well as generate new questions into the biology of the skeletal and mineral metabolism.


    Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

    Current Primary Outcome: Disease Progression [ Time Frame: On-going ]

    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: National Institutes of Health Clinical Center (CC)

    Dates:
    Date Received: July 21, 2015
    Date Started: July 9, 2015
    Date Completion: July 15, 2021
    Last Updated: April 21, 2017
    Last Verified: February 23, 2017