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

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ClinicalTrials.gov Identifier: NCT02504879
Recruitment Status : Recruiting
First Posted : July 22, 2015
Last Update Posted : June 3, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )

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 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.

Condition or disease
Rheumatic Disease

Detailed 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.

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 biennial 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.


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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease
Study Start Date : July 21, 2015
Estimated Primary Completion Date : July 15, 2021
Estimated Study Completion Date : July 15, 2021





Primary Outcome Measures :
  1. Disease Progression [ Time Frame: On-going ]


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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02504879


Contacts
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Contact: Smita Jha, M.D. (301) 496-4690 smita.jha@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Investigators
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Principal Investigator: James D Katz, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Additional Information:
Publications:
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Responsible Party: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
ClinicalTrials.gov Identifier: NCT02504879     History of Changes
Other Study ID Numbers: 150165
15-AR-0165
First Posted: July 22, 2015    Key Record Dates
Last Update Posted: June 3, 2019
Last Verified: February 26, 2019

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) ):
Osteosclerosis
Hyperostosis

Additional relevant MeSH terms:
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Rheumatic Diseases
Collagen Diseases
Melorheostosis
Musculoskeletal Diseases
Connective Tissue Diseases
Osteosclerosis
Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases