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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

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

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18 Years
Max Age: 90 Years

Referral Letter Required


Population Exclusion(s)

Adults who are or may become unable to consent;
Pregnant Women

Special Instructions

Currently Not Provided



Recruitment Keyword(s)



Rheumatic Disease

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Arthritis and Musculoskeletal and Skin Diseases


- 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.


-To see what happens to people with melorheostosis over time and understand the causes of the disease.


- People 18 and over with melorheostosis.

- Their unaffected relatives.


- 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.

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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.


-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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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.

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.

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.

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Principal Investigator

Referral Contact

For more information:

Sarthak Gupta, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Nancy A. Spencer
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health
Building 10
Room 4-1339
10 Center Drive
Bethesda, Maryland 20892
(301) 827-0186

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010

Clinical Trials Number:


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