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

NCT02504879 | Recruiting

• 2 other identifiers: 15016515-AR-0165
• Study Type: observational
• Target: 350
• Locations: 1 country
• Sites: 1

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.

Conditions

Rheumatic Disease

Keywords

Osteosclerosis; Hyperostosis; Natural History

Outcome Measures

Primary Outcomes (1)

• Disease progression

  explore etiology and natural history of melorheostosis. Besides MAP2K1, what other genetic changes play a role in the etiology of melorheostosis. Does the disease progress to involve new bones or extend into soft tissues over time or is it static

  end of the study

Secondary Outcomes (2)

• Identify medication that affect melorheostosis

  end of the study

• Identify biomarkers

  end of the study

Study Arms (2)

Melorheostosis patients

Patients aged \> 18 years with possible and confirmed melorheostosis.

Relatives of patients with melorheostosis

Relatives of patients with melorheostosis may be included for genetic testing only.

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients aged \> 18 years with possible melorheostosis. Relatives of patients with melorheostosis may be included for genetic testing only

You may qualify if:

• 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.

You may not qualify if:

• 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 unable to provide informed consent.

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (5)

• Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM. Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014;2014:670842. doi: 10.1155/2014/670842. Epub 2014 Oct 22.

  PMID: 25530967 BACKGROUND

• Ihde LL, Forrester DM, Gottsegen CJ, Masih S, Patel DB, Vachon LA, White EA, Matcuk GR Jr. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radiographics. 2011 Nov-Dec;31(7):1865-82. doi: 10.1148/rg.317115093.

  PMID: 22084176 BACKGROUND

• Jain VK, Arya RK, Bharadwaj M, Kumar S. Melorheostosis: clinicopathological features, diagnosis, and management. Orthopedics. 2009 Jul;32(7):512. doi: 10.3928/01477447-20090527-20.

  PMID: 19634844 BACKGROUND

• Farrell K, Comis LE, Casimir MM, Hodsdon B, Jimenez-Silva R, Dunigan T, Bhattacharyya T, Jha S. Occupational engagement, fatigue, and upper and lower extremity abilities in persons with melorheostosis. PM R. 2023 May;15(5):587-595. doi: 10.1002/pmrj.12817. Epub 2022 May 30.

  PMID: 35403375 DERIVED

• Jha S, Fratzl-Zelman N, Roschger P, Papadakis GZ, Cowen EW, Kang H, Lehky TJ, Alter K, Deng Z, Ivovic A, Flynn L, Reynolds JC, Dasgupta A, Miettinen M, Lange E, Katz J, Klaushofer K, Marini JC, Siegel RM, Bhattacharyya T. Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations. J Bone Miner Res. 2019 Jan;34(1):145-156. doi: 10.1002/jbmr.3577. Epub 2018 Sep 14.

  PMID: 30138550 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Rheumatic Diseases; Osteosclerosis; Hyperostosis

Condition Hierarchy (Ancestors)

Musculoskeletal Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases

Study Officials

• Sarthak Gupta, M.D.

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nancy A Spencer

CONTACT

(301) 827-0186; nancy.spencer@nih.gov

Sarthak Gupta, M.D.

CONTACT

(301) 443-8541; guptas3@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 21, 2015
• First Posted: July 22, 2015
• Study Start: August 16, 2015
• Primary Completion (Estimated): July 1, 2030
• Study Completion (Estimated): July 1, 2030
• Last Updated: April 24, 2026

Record last verified: 2026-04-02

Locations

US (1)