Scientists hunt for genes behind rare bone tumor diseases

NCT ID NCT06749366

Recruiting now Knowledge-focused Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to find the genetic causes of Ollier disease and Maffucci syndrome, rare disorders that cause cartilage tumors and increase cancer risk. Researchers will study 100 people aged 2 and older using blood tests, scans, and genetic sequencing. Participants will stay at the NIH clinic for 5 days for exams and imaging. The goal is to better understand these conditions, not to test a treatment.

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Conditions

The condition(s) this trial relates to.

chondroma chondrosarcoma Enchondromatosis hemangioma Maffucci syndrome Mucopolysaccharidosis IV Ollier disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ENCHONDROMATOSIS

Contacts and locations

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Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••
Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

Contact Phone: •••-•••-•••• Email: •••••@•••••