Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02504879
Recruitment Status : Recruiting
First Posted : July 22, 2015
Last Update Posted : June 3, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )

Tracking Information
First Submitted Date July 21, 2015
First Posted Date July 22, 2015
Last Update Posted Date June 3, 2019
Study Start Date July 21, 2015
Estimated Primary Completion Date July 15, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 21, 2015)
Disease Progression [ Time Frame: On-going ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT02504879 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease
Official Title Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease
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.
Detailed Description

Melorheostosis is a rare osteosclerotic disease resulting in exuberant excessive bone growth with a characteristic radiographic appearance often described as "dripping candle wax". As a result of these bony formations, patients report mild-moderate pain that interferes with their routine activities. It is usually diagnosed on radiographs but bone biopsy may be performed to exclude other osteosclerotic diseases and/or osteosarcoma. Deformities, limb-length discrepancy, muscle atrophy, neurological deficit have been reported as complications.

The cause of this disease is not known, the natural history poorly described and there is no clearly-defined systemic therapy. We propose a prospective observational study to investigate the natural history and pathogenesis of the disease. Some subjects will undergo standardized initial evaluation and medically indicated testing. Affected tissue will be sent for genetic testing to pursue the hypothesis that melorheostosis results from acquired somatic mutations in genes that control bone homeostasis. Enrolled subjects will be followed on an annual or biennial basis for assessment of disease progression and receive clinically indicated testing and treatment. The study of this rare bone disease offers the potential to generate new insights, provide answers as well as generate new questions into the biology of the skeletal and mineral metabolism.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Not Provided
Study Population Not Provided
Condition Rheumatic Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 21, 2015)
300
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 15, 2021
Estimated Primary Completion Date July 15, 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria
  • 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years to 100 Years   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Smita Jha, M.D. (301) 496-4690 smita.jha@nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02504879
Other Study ID Numbers 150165
15-AR-0165
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )
Study Sponsor National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Collaborators Not Provided
Investigators
Principal Investigator: James D Katz, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date February 26, 2019