Rare Glycogen Storage Diseases Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Progression of disease confirmed by medical record review
研究概览
简要总结
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.
详细描述
The immediate goal of this research is to create a natural history database to collect information from individuals who have a rare GSD. A repository of clinical, laboratory, and biochemical information on individuals with a rare GSD will allow a more definitive description of the different subtypes to be developed, which will permit development of treatment strategies in the future.
Duke will be the only site where this study takes place. However, since these are rare disorders, participants who receive care at other institutions will be included. The investigators will collect retrospective data from patient charts on diagnosed individuals, as far back as necessary to capture the clinical course of their disorder. Prospective data collected from patient charts after enrollment will be captured as well. Participant's medical records will be continually reviewed for the duration of the study.
Data will be collected from medical records and will only pertain to clinically relevant information, including, but not limited to: demographic and diagnostic information, tissue biopsy results, medical and family history, review of systems, imaging studies, results of liver, muscle, and nerve function testing, and urine and blood laboratory results.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease
- •Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases)
- •One variant in the gene associated with the specific GSD type (for autosomal dominant or X-linked diseases)
- •Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue
- •One variant in causative gene with evidence of disease, per a clinician
- •Histology as confirmed by a clinician
- •Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative)
- •Able to provide consent for release of medical records
- •Pregnant women with a diagnosis of a rare GSD will be included
排除标准
- •Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
结局指标
主要结局
Progression of disease confirmed by medical record review
时间窗: through study completion, an average of 10 years
次要结局
未报告次要终点