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NCT06749366 · ClinicalTrials.gov registry record

Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

A clinical trial of Enchondromatosis, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Recruiting
Registry status
100
Enrollment target
1
Study location

NCT06749366: Recruiting study of Enchondromatosis, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

NCT06749366 is a study of Enchondromatosis that is actively recruiting participants, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The registered enrollment target is 100 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.

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The verdict

NCT06749366, a study of Enchondromatosis, is actively recruiting participants, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

RECRUITING
Registry status
100 participants
Enrollment target
1
Study location

Study 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.

Primary Outcome

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.

Conditions Studied

Study Locations (1)

Maryland

  • National Institutes of Health Clinical Center - Bethesda

Trial Details

FieldValue
Enrollment Target 100 participants
Start Date 2025-01-27
Est. Completion 2030-12-31

What NCT06749366 shows while recruiting

NCT06749366 is an observational study that tracks outcomes without assigning an intervention. The registered 100 participants enrollment target is mid-sized for trials with a published cap.

The record links to 1 condition, with Enchondromatosis appearing as the primary indexed condition, and to 0 interventions.

NCT06749366 reports a single indexed study location in Maryland.

Frequently Asked Questions

What is clinical trial NCT06749366 about?

NCT06749366 is a clinical study titled "Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing". 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...

What is the current status of trial NCT06749366?

This trial is currently recruiting. The enrollment target is 100 participants. The study started on 2025-01-27. Estimated completion is 2030-12-31.

What conditions does trial NCT06749366 study?

This clinical trial studies the following conditions: Enchondromatosis.

Who is sponsoring clinical trial NCT06749366?

This trial is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total clinical trials registered on ClinicalTrials.gov.

Where is trial NCT06749366 being conducted?

This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.

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Source: ClinicalTrials.gov NCT06749366, the US trial registry maintained by the National Library of Medicine. NCT06749366 (mid enrollment · single site footprint · recruiting) retrieved and formatted by PlainTrial, see methodology.