Clinical trial NCT04999566: Cardiac Manifestation and Inherited Metabolic Diseases
Official title: Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Metabolism, Inborn Errors
Keywords: Cardiac involvement
Inborn errors of metabolism
Lead sponsor: University of Lausanne
Sponsor class: OTHER
First posted: 2021-08-11
Enrollment: 30
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 inherited metabolic diseases (IMD) from the Lausanne University Hospital (Division of Genetic Medicine)

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

* All IMD adult patients followed at the adult metabolic clinic at the Lausanne University Hospital from 2017 to 2020 with cardiac investigations

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 Inborn Errors of Metabolism listed by their frequency
timeFrame: Day 1
measure: Age at diagnosis (years/months)
timeFrame: Day 1
measure: Current age (years/months)
timeFrame: through study completion, an average of 1 year
measure: Weight (kg)
timeFrame: through study completion, an average of 1 year
measure: Height (cm)
timeFrame: through study completion, an average of 1 year
measure: BMI (kg/m^2)
timeFrame: through study completion, an average of 1 year
measure: Cardiac involvement
timeFrame: 3 years
measure: Left ventricular mass (g/m^2)
timeFrame: 3 years
measure: Left ventricular volume (cc/m^2)
timeFrame: 3 years
measure: Right ventricular volume (cc/m^2)
timeFrame: 3 years
measure: Left ventricular diameter (mm)
timeFrame: 3 years
measure: Left ventricular ejection fraction (%)
timeFrame: 3 years
measure: Right ventricular ejection fraction (%)
timeFrame: 3 years
measure: aortic root diameter (mm)
timeFrame: 3 years
measure: Additional cardiac investigations
timeFrame: 3 years
Secondary outcomes:
measure: Specific treatment for inherited metabolic diseases
timeFrame: 3 years
measure: Gender (Male/Female)
timeFrame: Day 1
Other outcomes:
Locations:
city: Lausanne
country: Switzerland
facility: Lausanne University Hospital
state: Vaud
Study officials:
References:
citation: Gariani K, Nascimento M, Superti-Furga A, Tran C. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics. Orphanet J Rare Dis. 2020 Aug 18;15(1):210. doi: 10.1186/s13023-020-01471-z.