Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

NCT06749366 | Recruiting

• 2 other identifiers: 10002192002192-CH
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Mendelian Disorders; Ollier Disease; Maffucci Syndrome; Skeletal Dysplasia; Enchondromas; Chondrosarcomas; Hemangiomas

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• 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

Study Arms (1)

Patients with Ollier disease (OD) and Maffucci syndrome (MS)

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

Eligibility Criteria

• Age: 2 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

100 patients with Ollier disease (OD) and Maffucci syndrome (MS)

You may qualify if:

• Patients \>=2 years of age, male or female, of any ethnicity and age will be included if diagnosed with a disorder characterized by cartilage tumors or vascular anomalies.

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Enchondromatosis; Mucopolysaccharidosis IV; Chondroma; Chondrosarcoma; Hemangioma

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Sarcoma; Neoplasms, Vascular Tissue

Study Officials

• Catherine M Gordon, M.D.

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Harinder D Raipuria, C.R.N.P.

CONTACT

(301) 254-2982; harinder.raipuria@nih.gov

Catherine M Gordon, M.D.

CONTACT

(301) 827-5449; catherine.gordon@nih.gov

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 21, 2024
• First Posted: December 27, 2024
• Study Start: January 27, 2025
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: April 28, 2026

Record last verified: 2026-04-24

Data Sharing

• IPD Sharing: Will share
• Shared Documents: SAP, ANALYTIC CODE
• Time Frame: In line with publication of results.
• Access Criteria: De-identified datasets used to generate results presented in manuscripts will be deposited into a repository that can be publicly accessible in line with NIH regulations. In compliance with ethical standards and institutional policies, other access to individual participant data will be governed by a structured data-sharing framework to ensure participant privacy and confidentiality. Access to IPD will be granted under a Data Use Agreement that specifies permissible uses, prohibits re-identification or further data sharing, and requires secure storage and handling of data. Access will be restricted to de-identified or coded datasets, with direct identifiers removed.

Locations

US (1)