RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2015-08-16
Study Completion:2030-07-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02504879

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years to 90 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. * 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.
  2. * Children (age less than 18 years) are excluded.
  3. * Subjects with severe active infection or other co-morbidities that in the opinion of the investigator would warrant exclusion.
  4. * Subjects unable to provide informed consent.

Contacts and Locations

Study Contact

Nancy A Spencer
CONTACT
(301) 827-0186
nancy.spencer@nih.gov
Sarthak Gupta, M.D.
CONTACT
(301) 443-8541
guptas3@mail.nih.gov

Principal Investigator

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

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

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

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-08-16
Study Completion Date2030-07-01

Study Record Updates

Study Start Date2015-08-16
Study Completion Date2030-07-01

Terms related to this study

Keywords Provided by Researchers

  • Osteosclerosis
  • Hyperostosis
  • Natural History

Additional Relevant MeSH Terms

  • Rheumatic Disease