Natural History Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease

  • STATUS
    Recruiting
  • End date
    Jul 15, 2025
  • participants needed
    350
  • sponsor
    National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Updated on 10 October 2021
x-rays
probe
urine test
electrical shock
melorheostosis
Accepts healthy volunteers

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 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.

Description

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. A subset of patients have somatic mutations in MAP2K1.

The cause of this disease is not known in all patients, 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. Subjects will undergo standardized initial evaluation and medically indicated testing. Skin biopsies may be performed to test for known mutations related to melorheotosis, and if negative affected bone and/or skin may be sent for genetic testing for acquired somatic mutations in genes that control bone homeostasis. Enrolled subjects will be followed every two to three years for assessment of disease progression and receive 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.

Details
Condition Rheumatism, CONNECTIVE TISSUE DISEASE, Musculoskeletal Disease, Dermatomyositis (Connective Tissue Disease), Connective Tissue Diseases, Musculoskeletal Diseases, rheumatic diseases, rheumatic, rheumatic disease, inflammatory rheumatism, collagen disorders
Clinical Study IdentifierNCT02504879
SponsorNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Last Modified on10 October 2021

Eligibility

Yes No Not Sure

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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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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