Understanding the genetic causes of cartilage tumors and vascular anomalies
Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies
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 |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 2 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT06749366 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Bethesda, Maryland
- 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: Harinder D Raipuria, C.R.N.P.
- Email: harinder.raipuria@nih.gov
- Phone: (301) 254-2982
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.