Cardiac Manifestation and Inherited Metabolic Diseases

Completed

• Conditions: Metabolism, Inborn Errors

• Registration Number: NCT04999566
• Lead Sponsor: University of Lausanne

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.

Study Timeline

• Study Start: 2021-05-01
• Study First Submitted: 2021-07-19
• Study First Submitted QC: 2021-08-07
• Study First Posted: 2021-08-11
• Primary Completion: 2023-01-30
• Status Verified: 2023-11
• Study Completion: 2024-09-02
• Last Update Submitted: 2024-12-03
• Last Update Posted: 2024-12-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Height (cm)	through study completion, an average of 1 year	Clinical outcome
aortic root diameter (mm)	3 years	Cardiac ultrasound and multiple resonance imaging description of aortic root diameter
Current age (years/months)	through study completion, an average of 1 year	Clinical outcome
Specific diagnosis of Inborn Errors of Metabolism listed by their frequency	Day 1	Clinical outcome
Age at diagnosis (years/months)	Day 1	Clinical outcome
BMI (kg/m^2)	through study completion, an average of 1 year	Clinical outcome. Weight and height will be combined to report BMI
Left ventricular mass (g/m^2)	3 years	Cardiac ultrasound and multiple resonance imaging description of left ventricular mass
Right ventricular volume (cc/m^2)	3 years	Cardiac ultrasound and multiple resonance imaging description of right ventricular volume
Weight (kg)	through study completion, an average of 1 year	Clinical outcome
Left ventricular diameter (mm)	3 years	Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter
Cardiac involvement	3 years	Type of complications (restrictive cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrythmia, heart failure, valvlulopathy, cardiomegaly, thrombosis)
Left ventricular volume (cc/m^2)	3 years	Cardiac ultrasound and multiple resonance imaging description of left ventricular volume
Left ventricular ejection fraction (%)	3 years	Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction
Right ventricular ejection fraction (%)	3 years	Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction
Additional cardiac investigations	3 years	ECG-QT interval

Secondary Outcome Measures

Name	Time	Method
Specific treatment for inherited metabolic diseases	3 years	Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, vitamin cofactors
Gender (Male/Female)	Day 1	Demography outcome

Trial Locations

Locations (1)

Lausanne University Hospital; 🇨🇭 Lausanne, Vaud, Switzerland