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Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

NCT06749366 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-05-12

No results posted yet for this study

Summary

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.

Conditions

  • Enchondromatosis

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • Catherine M Gordon, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
2 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-01-27
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06749366 on ClinicalTrials.gov