Characterization of Familial Myopathy and Paget Disease of Bone
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
研究概览
简要总结
The investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease.
The investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan.
Samples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study:
- •Muscle disorders considered include:
- •Limb Girdle Muscular Dystrophy
- •Inclusion body myopathy
- •FSH (Facioscapular muscular dystrophy) without the mutation
- •Scapuloperoneal muscular dystrophy
- •Amyotrophic Lateral Sclerosis
- •Non specific muscular dystrophy
- •Bone disorders including:
- •Paget disease of bone
- •Fibrous dysplasia
- •Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
- •Non-specific bone disease
- •Eligible participants must also be:
- •Subjects must to 18 years or older
- •Subjects must to able to give consent
- •Adult family members or spouses over the age of 18 of the affected individuals
排除标准
- •Under the age of
- •Individuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing.
- •Those who are unable to provide consent for themselves will be excluded from participating in the study.
研究者
Virginia Kimonis
Professor
University of California, Irvine