Clinical trial NCT03534752: Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland
Official title: Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Inborn Errors of Metabolism
Keywords: Inborn errors of Metabolism
Adulthood
Clinical characteristics
Lead sponsor: University of Lausanne
Sponsor class: OTHER
First posted: 2018-05-23
Enrollment: 220
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
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.

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.

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.

Primary outcomes:
measure: Specific diagnosis of IEM listed by their frequency
timeFrame: First visit
measure: Age at diagnosis (years/months)
timeFrame: First visit
measure: Medical complications
timeFrame: 4 years
measure: Specific treatment for Inborn Errors of Metabolism
timeFrame: 4 years
measure: Number of hospital admission
timeFrame: 4 years
measure: Survival rate (%)
timeFrame: 4 years
measure: Gender (Male/female)
timeFrame: First visit
Secondary outcomes:
measure: Abdominal Ultrasound results
timeFrame: 4 years
measure: Magnetic resonance Imaging scan
timeFrame: 4 years
measure: Bone density test
timeFrame: 4 years
measure: Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia)
timeFrame: 4 years
measure: Clinical chemistry
timeFrame: 4 years
measure: Hematology tests
timeFrame: 4 years
measure: Enzyme activity in leucocytes and/or fibroblasts
timeFrame: 4 years
measure: Molecular analysis results of candidate gene for Inborn Errors of metabolism
timeFrame: 4 years
Other outcomes:
measure: Educational level
timeFrame: 4 years
measure: Profession
timeFrame: 4 years
Locations:
city: Lausanne
country: Switzerland
facility: Lausanne University Hospitals
state: Vaud
Study officials:
affiliation: University of Lausanne Hospitals
name: Christel Tran, MD
role: PRINCIPAL_INVESTIGATOR
References: