Clinical Trial Readiness for the Dystroglycanopathies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 190
- 试验地点
- 1
- 主要终点
- 10 meter walk
研究概览
简要总结
The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials.
详细描述
Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct the body to make certain kinds of proteins.
In this study, researchers will examine the clinical presentation of muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan. Patients with dystroglycanopathies could have mutations in any one of the more than 20 currently identified genes, or evidence of dystroglycanopathy in biopsied muscle tissue . Symptoms range from congenital muscular dystrophy that may involve the brain and eye, through an adult-onset limb girdle muscular dystrophy.
The study involves a clinical evaluation at the University of Iowa. The evaluation includes muscle strength and motor ability testing, lung function testing, quality of life and activity assessment, and a review of past medical history. Portions of this evaluation will be repeated on a yearly basis. Financial assistance is available for travel to Iowa City. Support is also available for genetic testing for people with a dystroglycanopathy diagnosis based on muscle or skin biopsy analysis.
Knowledge gained from this study will improve healthcare recommendations for people with dystroglycanopathies, and provide a baseline for further study, including potential treatment options.
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
- 否
入选标准
- •Elevated CK (creatine kinase)
- •Evidence of a dystroglycanopathy as determined by review of muscle pathology OR documented mutation in one of the known genes OR abnormal alpha-dystroglycan glycosylation in cultured fibroblasts
- •Dystroglycanopathies are predicted to affect all racial and ethnic backgrounds, and all patients with dystroglycanopathies will be eligible for participation.
- •Participants may be of any age, including children, and males and females will be recruited equally.
- •Patients will have varying degrees of muscular weakness, but otherwise should be in relatively good health.
排除标准
- •There are no exclusion criteria.
结局指标
主要结局
10 meter walk
时间窗: through study completion, an average of 1 yea
time to walk 10 meters without assistive device
次要结局
- 4 stair climb(through study completion, an average of 1 yea)
研究者
Katherine Mathews
Professor and Principal Investigator
University of Iowa