Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 220
- 试验地点
- 1
- 主要终点
- Number of hospital admission
研究概览
简要总结
This is a retrospective study aimed at establishing a database of the current health of adult patients with IEM in the French-speaking part of Switzerland. .
详细描述
Background Inborn errors of metabolism (IEMs) are a group of rare disorders caused by genetic mutations that affect enzymes of intermediary metabolism. Because adult with IEMs has become an emerging and challenging group in Switzerland, this study is intended to assess the actual situation of adult patients with IEM in the French-speaking part of Switzerland, namely their age, their sex, their diagnosis, age at disease onset and their clinical outcome including complications of the disease.
All adult patients with a biochemical and/or genetic diagnosis of IEM followed at the adult metabolic clinic from the Lausanne University Hospital and Geneva University Hospital between 01.10.2013 to 31.12.2017 will be included in the study. In addition, investigators will also include the patients referred to the clinic for suspicion of IEM and determinate if the investigation confirmed an IEM disease. Electronic and paper patient charts will be reviewed for clinical features, biochemical investigations, molecular genetic testing, diagnostic imaging, treatment and long-term outcome. All data will be entered in an Excel database.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All IEM adult patients who were transitioned from the pediatric clinic to the adult metabolic clinic (the Centre for Molecular Disease in Lausanne and the Division of Endocrinology, Diabetology, Hypertension and Nutrition of the HUG) since its creation in 2013 and those who were referred to our clinic for suspicion of IEM and requiring further investigation.
排除标准
- •Age < 16 years . Any document attesting a refusal to participate will exclude the data entry of the concerned patient.
结局指标
主要结局
Number of hospital admission
时间窗: 4 years
Clinical outcome
Survival rate (%)
时间窗: 4 years
Clinical Outcome
Specific treatment for Inborn Errors of Metabolism
时间窗: 4 years
Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, carnitine, ubiquinone, vitamins, specific diet, dialysis, specific metabolic formula
Gender (Male/female)
时间窗: First visit
Demography outcome
Age at diagnosis (years/months)
时间窗: First visit
Clinical outcome
Specific diagnosis of IEM listed by their frequency
时间窗: First visit
Clinical outcome
Medical complications
时间窗: 4 years
Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes
次要结局
- Enzyme activity in leucocytes and/or fibroblasts(4 years)
- Bone density test(4 years)
- Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)(4 years)
- Clinical chemistry(4 years)
- Abdominal Ultrasound results(4 years)
- Magnetic resonance Imaging scan(4 years)
- Hematology tests(4 years)
- Molecular analysis results of candidate gene for Inborn Errors of metabolism(4 years)
研究者
Christel Tran
Principal Investigator
University of Lausanne