An observational study in Metabolism, Inborn Errors, sponsored by University of Lausanne. Completed at 1 site in Switzerland. Open to participants aged 16 Years and older. Per ClinicalTrials.gov, last updated 2024-12-04.
Sponsored by University of Lausanne · Observational
The aim of this study is to report and describe cardiac manifestations associated with IMD in a cohort of patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2020.
Inherited metabolic diseases (IMD) are genetic disorders resulting from an enzyme defect and/or transport proteins in metabolic pathways affecting proteins, fat, carbohydrate metabolism or impaired organelle function. As IMDs can affect the primary sources of energy (glycogen, fatty acids), they can lead to cardiac dysfunction. Although most of IMDs are multisystemic diseases, in some cases, the cardiac dysfunction they cause is the main clinical feature and source of major complications which will determine the prognosis, like heart failure, ventricular arrythmias or even sudden death. Information regarding cardiac manifestations in adult IMDs is currently scarce and little is known about their clinical and radiological characteristics.
A database was created in 2017 including all patients with IMD followed at the Adult Metabolic Clinic in the CHUV. This database was part of a protocol submitted and approved by the Ethics committee (# 2017-02328). The results of this first analysis were published in the Journal of Orphan Rare Diseases. Investigators will use this database to identify all the patients who had cardiac examination. Only patients from the Lausanne University Hospital followed jointly with the Division of Cardiology will be included in the analysis. Electronic and paper patient charts from the Division of Genetic Medicine and Division of Cardiology (Lausanne University Hospital) will be reviewed for type of IMD and cardiac investigations (cardiac ultrasound, multiple resonance Imaging, electrocardiogram). All variables will be entered in an excel database.
152 studies on the registry are indexed under Metabolism, Inborn Errors; 22 are open to participants now.
This study's enrollment of 30 is below the median of 65 across 45 observational studies indexed under Metabolism, Inborn Errors.
Browse Metabolism, Inborn Errors studies →University of Lausanne is the lead sponsor of 55 studies on the registry; 6 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Outpatient clinic for Adult patients with inherited metabolic diseases (IMD) from the Lausanne University Hospital (Division of Genetic Medicine)
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Specific diagnosis of Inborn Errors of Metabolism listed by their frequency
Clinical outcome
Time frame: Day 1
Age at diagnosis (years/months)
Clinical outcome
Time frame: Day 1
Current age (years/months)
Clinical outcome
Time frame: through study completion, an average of 1 year
Weight (kg)
Clinical outcome
Time frame: through study completion, an average of 1 year
Height (cm)
Clinical outcome
Time frame: through study completion, an average of 1 year
BMI (kg/m^2)
Clinical outcome. Weight and height will be combined to report BMI
Time frame: through study completion, an average of 1 year
Cardiac involvement
Type of complications (restrictive cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrythmia, heart failure, valvlulopathy, cardiomegaly, thrombosis)
Time frame: 3 years
Left ventricular mass (g/m^2)
Cardiac ultrasound and multiple resonance imaging description of left ventricular mass
Time frame: 3 years
Left ventricular volume (cc/m^2)
Cardiac ultrasound and multiple resonance imaging description of left ventricular volume
Time frame: 3 years
Right ventricular volume (cc/m^2)
Cardiac ultrasound and multiple resonance imaging description of right ventricular volume
Time frame: 3 years
Left ventricular diameter (mm)
Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter
Time frame: 3 years
Left ventricular ejection fraction (%)
Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction
Time frame: 3 years
Right ventricular ejection fraction (%)
Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction
Time frame: 3 years
aortic root diameter (mm)
Cardiac ultrasound and multiple resonance imaging description of aortic root diameter
Time frame: 3 years
Additional cardiac investigations
ECG-QT interval
Time frame: 3 years
Specific treatment for inherited metabolic diseases
Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, vitamin cofactors
Time frame: 3 years
Gender (Male/Female)
Demography outcome
Time frame: Day 1
Ran from May 2021 to primary completion in Jan 2023, 20 months.
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This study is completed, as verified in Nov 2023. You cannot join it, but the record below documents what was studied.
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University of Lausanne