Understanding the progression of melorheostosis, a rare bone disease
Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease
This study is trying to understand how melorheostosis, a rare bone disease, progresses over time in adults with the condition and their family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 350 (estimated) |
| Ages | 18 Years to 90 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT02504879 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the natural history and pathogenesis of melorheostosis, a rare osteosclerotic disease characterized by excessive bone growth. Participants aged 18 and over with melorheostosis, as well as their unaffected relatives, will undergo comprehensive evaluations including medical history, physical exams, and various tests such as blood and urine collection, X-rays, and neurological assessments. The study will follow participants over time to assess disease progression and explore potential genetic factors associated with the condition.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18 and over with suspected or confirmed melorheostosis.
Not a fit: Patients who are pregnant, lactating, or under 18 years old will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the causes and progression of melorheostosis, potentially leading to improved management strategies for patients.
How similar studies have performed: While studies on melorheostosis are limited, the approach of investigating the natural history of rare diseases has shown promise in other contexts.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Sarthak Gupta, M.D. — National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Study coordinator: Nancy A Spencer
- Email: nancy.spencer@nih.gov
- Phone: (301) 827-0186
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.