Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland
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ClinicalTrials.gov Identifier: NCT03534752 |
Recruitment Status :
Recruiting
First Posted : May 23, 2018
Last Update Posted : April 22, 2019
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Condition or disease |
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Inborn Errors of Metabolism |
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 |
Estimated Enrollment : | 150 participants |
Observational Model: | Cohort |
Time Perspective: | Retrospective |
Official Title: | Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland |
Actual Study Start Date : | April 1, 2018 |
Actual Primary Completion Date : | April 1, 2019 |
Estimated Study Completion Date : | April 1, 2020 |
- Specific diagnosis of IEM listed by their frequency [ Time Frame: First visit ]Clinical outcome
- Age at diagnosis (years/months) [ Time Frame: First visit ]Clinical outcome
- Medical complications [ Time Frame: 4 years ]Clinical outcome including acute liver failure, nephropathy, metabolic acidosis, ophthalmologic anomalies, epilepsy, encephalopathy, myopathy, neuropathy, diabetes
- Specific treatment for Inborn Errors of Metabolism [ Time Frame: 4 years ]Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, carnitine, ubiquinone, vitamins, specific diet, dialysis, specific metabolic formula
- Number of hospital admission [ Time Frame: 4 years ]Clinical outcome
- Survival rate (%) [ Time Frame: 4 years ]Clinical Outcome
- Gender (Male/female) [ Time Frame: First visit ]Demography outcome
- Abdominal Ultrasound results [ Time Frame: 4 years ]Radiological Imaging description of spleen and/or liver when available (size, echostructure)
- Magnetic resonance Imaging scan [ Time Frame: 4 years ]Radiological Imaging description of brain, abdomen and bone when available
- Bone density test [ Time Frame: 4 years ]Radiological Imaging description of bone including T-score when available
- Biological biomarkers of specific diseases (lysosomal storage disorders and galactosemia) [ Time Frame: 4 years ]Laboratory including blood concentration of chitotriosidase and Galactose-1-Phosphate
- Clinical chemistry [ Time Frame: 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
- Hematology tests [ Time Frame: 4 years ]Laboratory (blood count, international normalized ratio, prothrombin time)
- Enzyme activity in leucocytes and/or fibroblasts [ Time Frame: 4 years ]Enzyme activity of deficient enzyme when available for lysosomal storage diseases, mucopolysaccharidoses, cobalamin deficiency, diseases, classical homocystinuria
- Molecular analysis results of candidate gene for Inborn Errors of metabolism [ Time Frame: 4 years ]Laboratory including mutation results confirming the molecular origin of the disease when available
- Educational level [ Time Frame: 4 years ]Demography outcome
- Profession [ Time Frame: 4 years ]Demography outcome

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Ages Eligible for Study: | 16 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03534752
Contact: Christel Tran, MD | +41213143680 | christel.tran@chuv.ch |
Switzerland | |
Lausanne University Hospitals | Recruiting |
Lausanne, Vaud, Switzerland, 1011 | |
Contact: F , MD |
Principal Investigator: | Christel Tran, MD | Lausanne University Hospital |
Responsible Party: | Christel Tran, Principal Investigator, University of Lausanne |
ClinicalTrials.gov Identifier: | NCT03534752 History of Changes |
Other Study ID Numbers: |
2017-02328 |
First Posted: | May 23, 2018 Key Record Dates |
Last Update Posted: | April 22, 2019 |
Last Verified: | April 2019 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Inborn errors of Metabolism Adulthood Clinical characteristics |
Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases |