Pediatric and Adult Registry for Patients With ARThrogryposis
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 230
- 试验地点
- 1
- 主要终点
- Frequency of etiologies
研究概览
简要总结
The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)
详细描述
Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint limitation at least two distinct articular levels at birth which represents about 100 to 200 births with AMC in France per year.
The Reference Center (CR) at Grenoble Alpes University Hospital set up multidisciplinary consultations for pediatric and adult patients with AMC such as (MPR, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults , also including individual or group therapeutic education sessions) .
For develop the diagnostic and follow-up approach, the Reference center initiated the drafting of a diagnostic and care protocol (PNDS), on the one hand based on the data of the literature and on the other hand on expert opinions.
The project is based on four elements :
- This project is pediatric and adult registry. It should be possible to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages.
- The Recruitment of the patient is done immediately in France who's followed at the reference center in Grenoble Alpes University Hospital.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients diagnosed with arthrogryposis multiplex congenita prenatally or postnatally seen at least once at the reference center from January 2008 to July
- •pediatric and adult individuals.
- •Addressed to the reference centre of the University Hospital Grenoble Alpes.
- •living in France.
排除标准
- •Individuals who did not consent to use their data (or the data of their children).
- •Individuals with less than two affected joint levels.
- •Individuals under guardianship or deprived of liberty.
- •Inability to collect comprehensive medical information (individuals recently arrived in France)
结局指标
主要结局
Frequency of etiologies
时间窗: 2 years
The etiologies will be drawn up either by the confirmation of a genetic cause by a high-throughput sequencing analysis (NGS), a chromosomal analysis on a DNA chip (ACPA) and / or a leukocyte karyotype, or on anamnestic, clinical and paraclinical data for entities currently without genetic cause retained
次要结局
- Data from complementary examinations ( medical imaging including muscular MRI)(2 years)
- Results of phenotypic and functional assessment(2 years)
- Data from complementary examinations (molecular analyses)(2 years)
- Data from complementary examinations(biochemical analyses)(2 years)
- Data from complementary examinations (pathology)(2 years)
- Number and types of surgical procedures(2 years)