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

NCT03534752 | Completed

• 1 other identifier: 2017-02328
• Study Type: observational
• Target: 220
• Locations: 1 country
• Sites: 1

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. .

Conditions

Inborn Errors of Metabolism

Keywords

Inborn errors of Metabolism; Adulthood; Clinical characteristics

Outcome Measures

Primary Outcomes (7)

• 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 Outcomes (8)

• Abdominal Ultrasound results

  4 years

• Magnetic resonance Imaging scan

  4 years

• Bone density test

  4 years

• Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)

  4 years

• Clinical chemistry

  4 years

Other Outcomes (2)

• Educational level

  4 years

• Profession

  4 years

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• Age \< 16 years . Any document attesting a refusal to participate will exclude the data entry of the concerned patient.

Sponsors & Collaborators

• University of Lausanne: lead

Study Sites (1)

Lausanne University Hospitals

Lausanne, Canton of Vaud, 1011, Switzerland

Location

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Christel Tran, MD

  University of Lausanne Hospitals

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: April 10, 2018
• First Posted: May 23, 2018
• Study Start: April 1, 2018
• Primary Completion: April 1, 2019
• Study Completion: April 1, 2020
• Last Updated: July 20, 2021

Record last verified: 2021-07

Locations

CH (1)