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Understanding Genes in Cartilage Tumors and Vascular Anomalies

This observational study aims to understand the genetic causes of rare disorders called Ollier disease (OD) and Maffucci syndrome (MS). These conditions involve cartilage tumors, which can cause skeletal problems, and an increased risk of blood vessel disorders and certain cancers. Researchers want to learn more about what makes these conditions happen. You may be eligible if you are 2 years or older and have been diagnosed with OD or MS, especially if you have cartilage tumors or blood vessel disorders. The main goal is to fully describe the features of OD and MS patients over five years. The study is currently unclear on its recruitment status and plans to enroll up to 100 participants.

Study design
This is an observational study planning to enroll up to 100 participants. It is not a drug trial, but rather focuses on understanding the conditions.
What's involved
If you participate, you will stay at the NIH clinic for 5 days or longer. During this time, you will have a physical exam, blood tests, a DXA scan (to measure bone density), whole-body X-ray, MRA, whole-body PET scan, and an MRI.
Compensation
Not stated in the trial record.
Follow-up
The primary goal of defining patient features will be measured at 5 years after the study begins.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06749366

Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

Recruiting
Not specifiedAges 2+Observational
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
~100 participants
Updated 2026-06-15 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Comprehensively define the phenotypic features of patients with OD and MS.
Measured over 5 years

Conditions

Enchondromatosis

Explore related trials

ChondrosarcomaEnchondromaEnchondromatosisHemangiomaMaffucci SyndromeMendelian disordersSkeletal dysplasia

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

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

Who to contact

Mahsa Motevalli, C.R.N.P.
[email protected]
(240) 401-9101
Email the study team

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What this trial measures

  • Comprehensively define the phenotypic features of patients with OD and MS.5 years

    Identify the complete set of phenotypic features characteristic of patients with OD and MS by performing a detailed assessment of their clinical and family histories and physical features at the NIH/CC.