Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland

Completed

• Conditions: Inborn Errors of Metabolism

• Registration Number: NCT03534752
• Lead Sponsor: University of Lausanne

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.

Study Timeline

• Study Start: 2018-04-01
• Study First Submitted: 2018-04-10
• Study First Submitted QC: 2018-05-22
• Study First Posted: 2018-05-23
• Primary Completion: 2019-04-01
• Study Completion: 2020-04-01
• Status Verified: 2021-07
• Last Update Submitted: 2021-07-19
• Last Update Posted: 2021-07-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 220

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of hospital admission	4 years	Clinical outcome
Survival rate (%)	4 years	Clinical Outcome
Specific treatment for Inborn Errors of Metabolism	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)	First visit	Demography outcome
Age at diagnosis (years/months)	First visit	Clinical outcome
Specific diagnosis of IEM listed by their frequency	First visit	Clinical outcome
Medical complications	4 years	Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes

Secondary Outcome Measures

Name	Time	Method
Enzyme activity in leucocytes and/or fibroblasts	4 years	Enzyme activity of deficient enzyme when available for lysosomal storage diseases, mucopolysaccharidoses, cobalamin deficiency, diseases, classical homocystinuria
Bone density test	4 years	Radiological Imaging description of bone including T-score when available
Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)	4 years	Laboratory including blood concentration of chitotriosidase and Galactose-1-Phosphate
Clinical chemistry	4 years	Laboratory including blood concentration of sodium, potassium, liver function tests, creatinine, uric acid, urea, amino acids, acylcarnitine profile, methylmalonate, total homocysteine and urine concentration of organic acids
Abdominal Ultrasound results	4 years	Radiological Imaging description of spleen and/or liver when available (size, echostructure)
Magnetic resonance Imaging scan	4 years	Radiological Imaging description of brain, abdomen and bone when available
Hematology tests	4 years	Laboratory (blood count, international normalized ratio, prothrombin time)
Molecular analysis results of candidate gene for Inborn Errors of metabolism	4 years	Laboratory including mutation results confirming the molecular origin of the disease when available

Trial Locations

Locations (1)

Lausanne University Hospitals; 🇨🇭 Lausanne, Vaud, Switzerland