Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

Conditions

• Enchondromatosis

Eligibility Criteria

Sex

ALL

Age

2 Years - 100 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Jan 27, 2025

Status verified

Jun 2026

Primary completion

Dec 31, 2030

Completion

Dec 31, 2030

Study Design

Enrollment

100 participants (estimated)

Arms

• Arm: Patients with Ollier disease (OD) and Maffucci syndrome (MS)
  Patients with Ollier disease (OD) and Maffucci syndrome (MS).

Primary Outcome Measure

Comprehensively define the phenotypic features of patients with OD and MS. [ Time Frame: 5 years ]

Central Contacts

• Harinder D Raipuria, C.R.N.P.
  (301) 254-2982
  [email protected]
• Catherine M Gordon, M.D.
  (301) 827-5449
  [email protected]

Locations (1)

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