Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Inborn Errors of Metabolism
- Sponsor
- University of Lausanne
- Enrollment
- 220
- Locations
- 1
- Primary Endpoint
- Number of hospital admission
- Status
- Completed
- Last Updated
- 4 years ago
Overview
Brief Summary
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. .
Detailed Description
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.
Investigators
Christel Tran
Principal Investigator
University of Lausanne
Eligibility Criteria
Inclusion Criteria
- •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.
Exclusion Criteria
- •Age \< 16 years . Any document attesting a refusal to participate will exclude the data entry of the concerned patient.
Outcomes
Primary Outcomes
Number of hospital admission
Time Frame: 4 years
Clinical outcome
Survival rate (%)
Time Frame: 4 years
Clinical Outcome
Specific treatment for Inborn Errors of Metabolism
Time Frame: 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)
Time Frame: First visit
Demography outcome
Age at diagnosis (years/months)
Time Frame: First visit
Clinical outcome
Specific diagnosis of IEM listed by their frequency
Time Frame: First visit
Clinical outcome
Medical complications
Time Frame: 4 years
Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes
Secondary Outcomes
- 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)