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临床试验/NCT01193088
NCT01193088招募中不适用

Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT

University of Iowa22 个研究点 分布在 5 个国家目标入组 1,050 人开始时间: 2010年5月1日最近更新:
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适应症

试验速览

阶段
不适用
状态
招募中
入组人数
1,050
试验地点
22
主要终点
New genetic causes of CMT
研究概览研究设计入排标准结局指标研究者研究点记录与标识符相似试验

研究概览

简要总结

This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.

详细描述

This project is to understand modifier genes and how they influence the severity of disease expression, along with identifying new forms of CMT which have not been genetically determined. Subjects who are eligible will either have CMT type 1A (CMT1A) or an unknown form of CMT. Blood will be drawn and sent to the University of Miami where they receive the coded sample and process it through exome sequencing. Subjects will be told that this is optional.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Prospective

入排标准

性别
All
接受健康志愿者
是

入选标准

  • •All patients must agree to take part in the study and sign a consent form. A teenager (age 13-17 years) considering enrolling must agree to take part in the study and sign an assent form (depending on local ethics committee requirements).
  • •Additional inclusion criteria are described below.
  • •Inclusion Criteria: CMT1A Gene Modifier Study
  • •Patients must have at least one of the following:
  • •Patient has a documented PMP22 duplication. AND/OR
  • •Patient has a first or second degree relative (parent, child, sibling, half- sibling, aunt, uncle, grandparent, grandchild, niece, or nephew) with a documented PMP22 duplication AND a clear link between that family member and the affected patient AND a phenotype consistent with CMT1A.
  • •i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a PMP22 duplication, and the parent does not have any signs, symptoms, or electrophysiology consistent with CMT1A, there is no clear link.
  • •ii. In cases where clear links are not available, genetic testing is required for the patient or the first degree family member who is not clearly affected.
  • •Inclusion Criteria - Patients for CMT Exome Project
  • •a. Patient has demonstrated neuropathy on nerve conduction studies or clinically diagnosed genetic neuropathy, in the opinion of the investigator or genetic counsellor.
  • •Inclusion Criteria - Controls for CMT Exome Project
  • •Person is a family member of a CMT patient who is enrolled in the CMT Exome Project.
  • •AND one of the following:
  • •Person does not have a peripheral neuropathy, in the opinion of the investigator or genetic counsellor.
  • •Person is suspected to have a peripheral neuropathy, but has not been examined at an INC site.
  • •Exclusion Criteria
  • •Patient does not wish to participate or does not sign a consent form.
  • •For CMT Exome Project, patient has a genetically confirmed form of CMT (i.e. mutation in MFN2 causing CMT2A, mutation in GARS causing CMT2D, etc.).
  • •Patients with known neuropathy from a non-genetic source, such as chemotherapies (i.e. Vincristine, Taxol, Cisplatin), diabetes, alcoholism will be evaluated independently so that genetic contributions to their effects on CMT1A phenotypes can also be analyzed.

排除标准

  • 未提供

结局指标

主要结局

New genetic causes of CMT

时间窗: Once

At least 33% of people with CMT have an unknown or genetically un-found form of the condition. We are looking for additional genes that cause CMT when mutated.

Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers

时间窗: once

While the same genetic change - an extra copy of PMP22 - causes CMT1A by definition, it is unclear why some people have more severe symptoms and some have less severe. We are looking for genetic modifiers - changes in the DNA that may be causing the differences in symptoms.

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Michael Shy

Professor

University of Iowa

研究点 (22)

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