An observational study in Rheumatic Disease, sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). Recruiting at 1 site in United States. Open to participants aged 18 Years to 90 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-05.
Sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) · Observational
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:
Design:
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. A subset of patients have somatic mutations in MAP2K1.
The cause of this disease is not known in all patients, 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. Subjects will undergo standardized initial evaluation and medically indicated testing. Skin biopsies may be performed to test for known mutations related to melorheotosis, and if negative affected bone and/or skin may be sent for genetic testing for acquired somatic mutations in genes that control bone homeostasis. Enrolled subjects will be followed every two to three years for assessment of disease progression and receive 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.
264 studies on the registry are indexed under Rheumatic Diseases; 60 are open to participants now.
This study's planned enrollment of 350 is above the median of 225 across 90 observational studies indexed under Rheumatic Diseases.
Browse Rheumatic Diseases studies →National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) is the lead sponsor of 100 studies on the registry; 12 are open to participants now.
Of its 7 completed or terminated interventional studies of FDA-regulated products, 5 (71%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients aged > 18 years with possible melorheostosis. Relatives of patients with melorheostosis may be included for genetic testing only
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).
Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Childbearing potential
Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).
Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients aged \> 18 years with possible and confirmed melorheostosis.
Relatives of patients with melorheostosis may be included for genetic testing only.
Disease progression
explore etiology and natural history of melorheostosis. Besides MAP2K1, what other genetic changes play a role in the etiology of melorheostosis. Does the disease progress to involve new bones or extend into soft tissues over time or is it static
Time frame: end of the study
Identify medication that affect melorheostosis
What medications are most effective to help with pain management in melorheostosis
Time frame: end of the study
Identify biomarkers
Can biomarkers of disease activity be ascertained.
Time frame: end of the study
Plan to share: Undecided — Protocol is silent about IPD sharing
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) →