Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Comprehensively define the phenotypic features of patients with OD and MS.
研究概览
简要总结
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.
详细描述
Study Design:
The study will recruit and enroll up to 100 patients with Ollier disease (OD) and Maffucci syndrome (MS) over five years. Each participant will be seen at the NIH Clinical Center (CC) for an inpatient study visit of 5 days or longer.
During that visit, the following procedures will be performed: dual-energy x-ray absorptiometry (DXA), whole-body X-ray, magnetic resonance angiography (MRA), whole-body positron emission tomography (PET) scan, a magnetic resonance imaging (MRI), and brain single-voxel magnetic resonance spectroscopy. After being seen at the NIH CC by the study team, the participants will receive a summary of all the results of the tests and consults completed at the NIH.
Family members enrolled for genome sequencing will not undergo any clinical evaluations at the NIH CC.
Dr. Gordon will oversee the implementation of the study at the NIH. Dr. Marini was involved in the original NIH grant application and has retired but she retains an appointment at the NIH as a Scientist Emeritus/ Volunteer. Dr. Marini will serve on the protocol as a Senior Clinical Consultant and work at the NIH CC. She will not consent participants but will be present at many of the study visits.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 2 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- 未提供
研究组 & 干预措施
Patients with Ollier disease (OD) and Maffucci syndrome (MS)
Patients with Ollier disease (OD) and Maffucci syndrome (MS).
结局指标
主要结局
Comprehensively define the phenotypic features of patients with OD and MS.
时间窗: 5 years
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.
次要结局
- 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)