Protocol Details
Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies
This study is currently recruiting participants.
Summary
Number |
002192-CH |
Sponsoring Institute |
National Institute of Child Health and Human Development (NICHD) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: 100 Years |
Referral Letter Required |
No |
Population Exclusion(s) |
Pregnant Women;
Adults who are or may become unable to consent |
Keywords |
Mendelian Disorders;
Ollier Disease;
Maffucci Syndrome;
Skeletal Dysplasia;
Enchondromas;
Chondrosarcomas;
Hemangiomas |
Recruitment Keyword(s) |
None |
Condition(s) |
Enchondromatosis |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Institute of Child Health and Human Development |
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.
Eligibility
INCLUSION CRITERIA:
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.
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT06749366