Recruiting

Observational Study

Sponsor:

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

Code:

NCT02504879

Conditions

Rheumatic Disease

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT02504879

Start date

Aug 16, 2015

Status verified date

Jul 14, 2026

Completion date

Jul 1, 2030

Anticipated

Primary completion date

Jul 1, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

350 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Disease progression [ Time Frame: end of the study ]

Central Contacts and Locations

Central contacts

Nancy A Spencer

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

Sarthak Gupta, M.D.

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

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

More Information

Sponsor

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

Last update posted

Aug 31, 2026

Last verified

Jul 14, 2026

Keywords

  • Osteosclerosis
  • Hyperostosis
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) on 2026-08-31.