NCT06749366Recruiting
Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing
Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies
Source: ClinicalTrials.gov · Last updated 1 Oct 2026
Brief summary (registry, in English)
Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood. People with OD or MS are also at an increased risk of blood vessel disorders and specific cancers. Researchers want to learn more about what causes these disorders. Objective: To understand the genetic causes of OD and MS. Eligibility: People aged 2 years and older who have OD or MS with cartilage tumors or blood vessel disorders. Design: Participants will stay at the NIH clinic for 5 days. They will undergo these procedures: A physical exam with blood tests. DXA (dual-energy X-ray absorptiometry) scan. The DXA scan measures the density of bones. Participants will lie on a table while a machine uses low-level X-rays to scan their body. MRI (magnetic resonance imaging) scan. An MRI uses strong magnets to take pictures of the tissues inside the body. Participants will lie on a table that slides into a large tube. A contrast dye may be injected through a needle inserted into a vein in the arm. X-rays. Some participants may have full-body X-rays instead of an MRI. X-rays take pictures of bones and other internal tissues and organs, such as the heart, lungs, and airways. PET (positron emission tomography) and CT (computed tomography) scans. Adult participants will have 2 other scans. The PET scan will include a radioactive injection into a vein. They will also have a full-body CT scan.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 21 Dec 2024
- Start date
- 27 Jan 2025
- Primary completion date
- 31 Dec 2030
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Diseases
- Childhood cancers, Sarcoma
- NCT number
- NCT06749366
What you commit to
- Study type: Observational
- Planned participants: 100
- From 27 Jan 2025 to the primary completion date, 31 Dec 2030
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Criteria the registry did not label
- INCLUSION CRITERIA:
- Patients \>=2 years of age, male or female, of any ethnicity and age will be included if diagnosed with a disorder characterized by cartilage tumors or vascular anomalies.
Age in the registry: 2 years to 100 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Clinical Center Coordinator of this site? Confirm its status | Bethesda | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.