NCT04999566

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
30

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2021

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 2021

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

July 19, 2021

Completed
23 days until next milestone

First Posted

Study publicly available on registry

August 11, 2021

Completed
1.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 30, 2023

Completed
1.6 years until next milestone

Study Completion

Last participant's last visit for all outcomes

September 2, 2024

Completed
Last Updated

December 4, 2024

Status Verified

November 1, 2023

Enrollment Period

1.8 years

First QC Date

July 19, 2021

Last Update Submit

December 3, 2024

Conditions

Metabolism, Inborn Errors

Keywords

Cardiac involvementInborn errors of metabolism

Outcome Measures

Primary Outcomes (15)

  • Specific diagnosis of Inborn Errors of Metabolism listed by their frequency

    Clinical outcome

    Day 1

  • Age at diagnosis (years/months)

    Clinical outcome

    Day 1

  • Current age (years/months)

    Clinical outcome

    through study completion, an average of 1 year

  • Weight (kg)

    Clinical outcome

    through study completion, an average of 1 year

  • Height (cm)

    Clinical outcome

    through study completion, an average of 1 year

  • BMI (kg/m^2)

    Clinical outcome. Weight and height will be combined to report BMI

    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)

    3 years

  • Left ventricular mass (g/m^2)

    Cardiac ultrasound and multiple resonance imaging description of left ventricular mass

    3 years

  • Left ventricular volume (cc/m^2)

    Cardiac ultrasound and multiple resonance imaging description of left ventricular volume

    3 years

  • Right ventricular volume (cc/m^2)

    Cardiac ultrasound and multiple resonance imaging description of right ventricular volume

    3 years

  • Left ventricular diameter (mm)

    Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter

    3 years

  • Left ventricular ejection fraction (%)

    Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction

    3 years

  • Right ventricular ejection fraction (%)

    Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction

    3 years

  • aortic root diameter (mm)

    Cardiac ultrasound and multiple resonance imaging description of aortic root diameter

    3 years

  • Additional cardiac investigations

    ECG-QT interval

    3 years

Secondary Outcomes (2)

  • Specific treatment for inherited metabolic diseases

    3 years

  • Gender (Male/Female)

    Day 1

Eligibility Criteria

Age16 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Outpatient clinic for Adult patients with inherited metabolic diseases (IMD) from the Lausanne University Hospital (Division of Genetic Medicine)

You may qualify if:

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

You may not qualify if:

  • Age \< 16 years. Any document attesting a refusal to participate will exclude the data entry of the concerned patient

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Lausanne University Hospital

Lausanne, Canton of Vaud, 1011, Switzerland

Location

Related 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/s13023-020-01471-z.

    PMID: 32811506RESULT

Related Links

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

July 19, 2021

First Posted

August 11, 2021

Study Start

May 1, 2021

Primary Completion

January 30, 2023

Study Completion

September 2, 2024

Last Updated

December 4, 2024

Record last verified: 2023-11

Locations

CH(1)