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

Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland

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. .

Study Overview

• Status: Completed
• Conditions: Inborn Errors of Metabolism

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 Type: Observational
• Enrollment (Actual): 220

Contacts and Locations

Study Locations

• Switzerland
  • Vaud
    • Lausanne, Vaud, Switzerland, 1011
      • Lausanne University Hospitals

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Outpatient clinic for Adult patients with Inborn Errors of Metabolism from the Lausanne University Hospital (Division of Genetic Medicine) and Geneva University Hospital (Division of Endocrinology, Diabetology, Hypertension and Nutrition of the HUG.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Specific diagnosis of IEM listed by their frequency	Clinical outcome	First visit
Age at diagnosis (years/months)	Clinical outcome	First visit
Medical complications	Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes	4 years
Specific treatment for Inborn Errors of Metabolism	Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, carnitine, ubiquinone, vitamins, specific diet, dialysis, specific metabolic formula	4 years
Number of hospital admission	Clinical outcome	4 years
Survival rate (%)	Clinical Outcome	4 years
Gender (Male/female)	Demography outcome	First visit

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Abdominal Ultrasound results	Radiological Imaging description of spleen and/or liver when available (size, echostructure)	4 years
Magnetic resonance Imaging scan	Radiological Imaging description of brain, abdomen and bone when available	4 years
Bone density test	Radiological Imaging description of bone including T-score when available	4 years
Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)	Laboratory including blood concentration of chitotriosidase and Galactose-1-Phosphate	4 years
Clinical chemistry	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	4 years
Hematology tests	Laboratory (blood count, international normalized ratio, prothrombin time)	4 years
Enzyme activity in leucocytes and/or fibroblasts	Enzyme activity of deficient enzyme when available for lysosomal storage diseases, mucopolysaccharidoses, cobalamin deficiency, diseases, classical homocystinuria	4 years
Molecular analysis results of candidate gene for Inborn Errors of metabolism	Laboratory including mutation results confirming the molecular origin of the disease when available	4 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Educational level	Demography outcome	4 years
Profession	Demography outcome	4 years

Collaborators and Investigators

• Sponsor: University of Lausanne
• Investigators: Principal Investigator: Christel Tran, MD, Lausanne University hospital

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2018
• Primary Completion (Actual): April 1, 2019
• Study Completion (Actual): April 1, 2020

Study Registration Dates

• First Submitted: April 10, 2018
• First Submitted That Met QC Criteria: May 22, 2018
• First Posted (Actual): May 23, 2018

Study Record Updates

• Last Update Posted (Actual): July 20, 2021
• Last Update Submitted That Met QC Criteria: July 19, 2021
• Last Verified: July 1, 2021

More Information

Terms related to this study

• Keywords: Inborn errors of Metabolism; Adulthood; Clinical characteristics
• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors
• Other Study ID Numbers: 2017-02328

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No