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

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 90
Healthy Volunteers: f
View:

• 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.

Locations
United States
Maryland
National Institutes of Health Clinical Center
RECRUITING
Bethesda
Contact Information
Primary
Nancy A Spencer
nancy.spencer@nih.gov
(301) 827-0186
Backup
Sarthak Gupta, M.D.
guptas3@mail.nih.gov
(301) 443-8541
Time Frame
Start Date: 2015-08-16
Estimated Completion Date: 2030-07-01
Participants
Target number of participants: 350
Treatments
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.
Sponsors
Leads: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

This content was sourced from clinicaltrials.gov

Similar Clinical Trials