Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies
Sponsor study identifier
Secondary identifiers
observational
100
1 country
1
Study Start
January 27, 2025
Actual (reported)Primary Completion
December 31, 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 31, 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 31, 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
December 21, 2024
Actual (reported)December 27, 2024
Actual (reported)January 27, 2025
Actual (reported)December 31, 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
December 31, 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Comprehensively define the phenotypic features of patients with OD and MS.
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.
5 years
Identify and locate enchondromas, vascular anomalies, and other tumors with imaging techniques. Create a biobank of patient and family specimens for genetic and metabolic testing.
5 years
Patients with Ollier disease (OD) and Maffucci syndrome (MS).
100 patients with Ollier disease (OD) and Maffucci syndrome (MS)
Contact the study team to confirm eligibility.
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Catherine M Gordon, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
First Submitted
December 21, 2024
First Posted
December 27, 2024
Study Start
January 27, 2025
Actual (reported)Primary Completion
December 31, 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 31, 2030
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
October 1, 2026
Record last verified: 2026-09-29
All IPD that underlie results in a publication will be deposited into a data repository in line with NIH regulations.
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Source: ClinicalTrials.gov.
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