Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,000
- 试验地点
- 23
- 主要终点
- Evaluation of the clinical data of MPS like signs for each system
研究概览
简要总结
The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed diagnosis of MPS based on clinically relevant enzyme deficiency, with abnormally elevated GAG urinary excretion and/or identification of pathogenic mutations.
- •Signed informed consent or parents/guardian non-opposition for deceased patients (minor or protected major)
- •There are no non-inclusion criteria.
排除标准
- 未提供
结局指标
主要结局
Evaluation of the clinical data of MPS like signs for each system
时间窗: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like growth for each system
时间窗: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like symptoms for each system
时间窗: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like complications for each system
时间窗: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like psychomotor milestones
时间窗: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like cognitive evolution
时间窗: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like handicap using scales adapted to multivisceral disease for all types of MPS
时间窗: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like ERG
时间窗: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG before specific treatment
时间窗: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like handicap using scales adapted to cognitive and neurologic disease for the types I, II, III VII
时间窗: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like standard bone radiographs
时间窗: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like abdominal echography
时间窗: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like echocardiography
时间窗: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry
时间窗: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like magnetic resonance imaging
时间窗: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EMG
时间窗: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG during specific treatment
时间窗: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EEG
时间窗: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities during specific treatment
时间窗: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities before specific treatment
时间窗: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like specific antibodies
时间窗: Through study completion, an average of 5 years
Evaluation of the molecular data of MPS
时间窗: Through study completion, an average of 5 years
次要结局
- Description of the outcome of MPS diseases under specific treatment.(Through study completion, an average of 5 years)
- Identification of mutation(s) in each MPS type(Through study completion, an average of 5 years)
- Description of the management of MPS diseases without specific treatment(Through study completion, an average of 5 years)
- Description of the management of MPS diseases before specific treatment(Through study completion, an average of 5 years)
- Description of the outcome of MPS diseases without specific treatment(Through study completion, an average of 5 years)
- Description of the outcome of MPS diseases before specific treatment(Through study completion, an average of 5 years)
- Description of the management of MPS diseases under specific treatment.(Through study completion, an average of 5 years)
- Establishment of genotype/phenotype relationships in each MPS type.(Through study completion, an average of 5 years)