Understanding the genetic causes of cartilage tumors and vascular anomalies
Official title: Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies
Run by National Institutes of Health Clinical Center (CC) · NCT06749366 · Data updated 2026-11-12
This study is trying to find out the genetic reasons behind rare conditions like Ollier disease and Maffucci syndrome that cause cartilage tumors and blood vessel issues in people aged 2 and older.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 2 Years to 100 Years |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | January 27, 2025 |
| Main results expected | December 31, 2030 |
| Study ends | December 31, 2030 |
| Registry record updated | October 1, 2026 |
| Trial ID | NCT06749366 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals aged 2 years and older diagnosed with Ollier disease or Maffucci syndrome who have cartilage tumors or vascular anomalies.
✕Probably not a fit
Patients without a diagnosis of Ollier disease or Maffucci syndrome, or those who do not have cartilage tumors or vascular anomalies, may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to uncover the genetic factors contributing to Ollier disease and Maffucci syndrome, which are rare disorders associated with cartilage tumors and vascular anomalies. Participants aged 2 years and older will be recruited and will undergo a series of diagnostic tests, including DXA scans, MRI, and PET scans, during a 5-day inpatient visit at the NIH Clinical Center. The study will enroll up to 100 patients over five years, with the goal of providing insights into the genetic underpinnings of these conditions. Results from the tests will be shared with participants to enhance understanding and management of their disorders.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with Ollier disease and Maffucci syndrome.
How similar studies have gone: While the specific genetic causes of Ollier disease and Maffucci syndrome are not extensively studied, similar genomic sequencing approaches have shown promise in uncovering genetic factors in other rare disorders.
Who can join: the full rules
Show full inclusion / exclusion criteria
* 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.
Where it's running
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Catherine M Gordon, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Mahsa Motevalli, C.R.N.P.
- Email: mahsa.motevalli@nih.gov
- Phone: (240) 401-9101
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.