Cardiac Manifestation and Inherited Metabolic Diseases

Metabolism, Inborn Errors Clinical Trial

Official title:

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04999566
• Other study ID #: 2020-02531
• Status: Recruiting
• Start date: May 1, 2021
• Est. completion date: September 2, 2024

Study information

• Verified date: November 2023
• Source: University of Lausanne
• Contact: Christel Tran, MD
• Phone: +41213143680
• Email: christel.tran[@]chuv.ch
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: September 2, 2024
• Est. primary completion date: January 30, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Metabolic Diseases
• Metabolism, Inborn Errors

Locations

Country	Name	City	State
Switzerland	Lausanne University Hospital	Lausanne	Vaud

Sponsors (1)

Lead Sponsor	Collaborator
University of Lausanne

Country where clinical trial is conducted

Switzerland, 

References & Publications (1)

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/s13 — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Specific diagnosis of Inborn Errors of Metabolism listed by their frequency	Clinical outcome	Day 1
Primary	Age at diagnosis (years/months)	Clinical outcome	Day 1
Primary	Current age (years/months)	Clinical outcome	through study completion, an average of 1 year
Primary	Weight (kg)	Clinical outcome	through study completion, an average of 1 year
Primary	Height (cm)	Clinical outcome	through study completion, an average of 1 year
Primary	BMI (kg/m^2)	Clinical outcome. Weight and height will be combined to report BMI	through study completion, an average of 1 year
Primary	Cardiac involvement	Type of complications (restrictive cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrythmia, heart failure, valvlulopathy, cardiomegaly, thrombosis)	3 years
Primary	Left ventricular mass (g/m^2)	Cardiac ultrasound and multiple resonance imaging description of left ventricular mass	3 years
Primary	Left ventricular volume (cc/m^2)	Cardiac ultrasound and multiple resonance imaging description of left ventricular volume	3 years
Primary	Right ventricular volume (cc/m^2)	Cardiac ultrasound and multiple resonance imaging description of right ventricular volume	3 years
Primary	Left ventricular diameter (mm)	Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter	3 years
Primary	Left ventricular ejection fraction (%)	Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction	3 years
Primary	Right ventricular ejection fraction (%)	Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction	3 years
Primary	aortic root diameter (mm)	Cardiac ultrasound and multiple resonance imaging description of aortic root diameter	3 years
Primary	Additional cardiac investigations	ECG-QT interval	3 years
Secondary	Specific treatment for inherited metabolic diseases	Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, vitamin cofactors	3 years
Secondary	Gender (Male/Female)	Demography outcome	Day 1

External Links

•   Article open-access