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

Inborn Errors of Metabolism Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03534752
• Other study ID #: 2017-02328
• Status: Completed
• Start date: April 1, 2018
• Est. completion date: April 1, 2020

Study information

• Verified date: July 2021
• Source: University of Lausanne
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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. .

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 220
• Est. completion date: April 1, 2020
• Est. primary completion date: April 1, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Inborn Errors of Metabolism
• Metabolism, Inborn Errors

Locations

Country	Name	City	State
Switzerland	Lausanne University Hospitals	Lausanne	Vaud

Sponsors (1)

Lead Sponsor	Collaborator
University of Lausanne

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Educational level	Demography outcome	4 years
Other	Profession	Demography outcome	4 years
Primary	Specific diagnosis of IEM listed by their frequency	Clinical outcome	First visit
Primary	Age at diagnosis (years/months)	Clinical outcome	First visit
Primary	Medical complications	Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes	4 years
Primary	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
Primary	Number of hospital admission	Clinical outcome	4 years
Primary	Survival rate (%)	Clinical Outcome	4 years
Primary	Gender (Male/female)	Demography outcome	First visit
Secondary	Abdominal Ultrasound results	Radiological Imaging description of spleen and/or liver when available (size, echostructure)	4 years
Secondary	Magnetic resonance Imaging scan	Radiological Imaging description of brain, abdomen and bone when available	4 years
Secondary	Bone density test	Radiological Imaging description of bone including T-score when available	4 years
Secondary	Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)	Laboratory including blood concentration of chitotriosidase and Galactose-1-Phosphate	4 years
Secondary	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
Secondary	Hematology tests	Laboratory (blood count, international normalized ratio, prothrombin time)	4 years
Secondary	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
Secondary	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