Metabolism, Inborn ErrorsNCT04999566
Cardiac Manifestation and Inherited Metabolic Diseases
An observational study of Metabolism, Inborn Errors, run by University of Lausanne at 1 site in Switzerland.
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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Metabolism, Inborn Errors
- How many people
- 30 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 May 2021to 2 Sep 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Outpatient clinic for Adult patients with inherited metabolic diseases (IMD) from the Lausanne University Hospital (Division of Genetic Medicine)
Who may be able to join
- All IMD adult patients followed at the adult metabolic clinic at the Lausanne University Hospital from 2017 to 2020 with cardiac investigations
Who cannot join
- Age < 16 years. Any document attesting a refusal to participate will exclude the data entry of the concerned patient
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
Lausanne University Hospital
Lausanne, Canton of Vaud, 1011
About this study
Official title: Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
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.
Read the 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.
- Conditions
- Metabolism, Inborn Errors
- Keywords
- Cardiac involvement, Inborn errors of metabolism
- Medical subject headings
- Metabolism, Inborn Errors
What is being measured
The primary outcome is the main question the study is designed to answer.
Specific diagnosis of Inborn Errors of Metabolism listed by their frequency
Clinical outcome
Measured: Day 1
Age at diagnosis (years/months)
Clinical outcome
Measured: Day 1
Current age (years/months)
Clinical outcome
Measured: through study completion, an average of 1 year
Weight (kg)
Clinical outcome
Measured: through study completion, an average of 1 year
Height (cm)
Clinical outcome
Measured: through study completion, an average of 1 year
BMI (kg/m^2)
Clinical outcome. Weight and height will be combined to report BMI
Measured: 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)
Measured: 3 years
Left ventricular mass (g/m^2)
Cardiac ultrasound and multiple resonance imaging description of left ventricular mass
Measured: 3 years
Left ventricular volume (cc/m^2)
Cardiac ultrasound and multiple resonance imaging description of left ventricular volume
Measured: 3 years
Right ventricular volume (cc/m^2)
Cardiac ultrasound and multiple resonance imaging description of right ventricular volume
Measured: 3 years
Left ventricular diameter (mm)
Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter
Measured: 3 years
Left ventricular ejection fraction (%)
Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction
Measured: 3 years
Right ventricular ejection fraction (%)
Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction
Measured: 3 years
aortic root diameter (mm)
Cardiac ultrasound and multiple resonance imaging description of aortic root diameter
Measured: 3 years
Additional cardiac investigations
ECG-QT interval
Measured: 3 years
Secondary outcomes (2)
Specific treatment for inherited metabolic diseases
Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, vitamin cofactors
Measured: 3 years
Gender (Male/Female)
Demography outcome
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2021
- Study start1 May 2021
- Primary completion30 Jan 2023
- Study completion2 Sep 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Metabolism, Inborn ErrorsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Lausanne
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christel Tran, University of Lausanne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04999566
- Sponsor's protocol ID
- 2020-02531
- Status last verified
- Nov 2023
- First submitted
- 19 Jul 2021
- Last updated
- 4 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 32811506
Study at a glance
From the registry record, last updated by the sponsor on 4 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
- ClinicalTrials.gov ID
- NCT04999566
- Acronym / sponsor ID
- 2020-02531
- Conditions
- Metabolism, Inborn Errors
- Keywords
- Cardiac involvement, Inborn errors of metabolism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- University of LausanneUniversity, hospital or other
- Study start
- 1 May 2021 (actual)
- Primary completion
- 30 Jan 2023 (actual)
- Study completion
- 2 Sep 2024 (actual)
- First posted
- 11 Aug 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Outpatient clinic for Adult patients with inherited metabolic diseases (IMD) from the Lausanne University Hospital (Division of Genetic Medicine)
Key inclusion criteria (1 listed)
- All IMD adult patients followed at the adult metabolic clinic at the Lausanne University Hospital from 2017 to 2020 with cardiac investigations
Key exclusion criteria (1 listed)
- Age < 16 years. Any document attesting a refusal to participate will exclude the data entry of the concerned patient
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Specific diagnosis of Inborn Errors of Metabolism listed by their frequency
Time frame: Day 1
Clinical outcome
Age at diagnosis (years/months)
Time frame: Day 1
Clinical outcome
Current age (years/months)
Time frame: through study completion, an average of 1 year
Clinical outcome
Weight (kg)
Time frame: through study completion, an average of 1 year
Clinical outcome
Height (cm)
Time frame: through study completion, an average of 1 year
Clinical outcome
BMI (kg/m^2)
Time frame: through study completion, an average of 1 year
Clinical outcome. Weight and height will be combined to report BMI
Cardiac involvement
Time frame: 3 years
Type of complications (restrictive cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrythmia, heart failure, valvlulopathy, cardiomegaly, thrombosis)
Left ventricular mass (g/m^2)
Time frame: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular mass
Left ventricular volume (cc/m^2)
Time frame: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular volume
Right ventricular volume (cc/m^2)
Time frame: 3 years
Cardiac ultrasound and multiple resonance imaging description of right ventricular volume
Left ventricular diameter (mm)
Time frame: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter
Left ventricular ejection fraction (%)
Time frame: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction
Right ventricular ejection fraction (%)
Time frame: 3 years
Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction
aortic root diameter (mm)
Time frame: 3 years
Cardiac ultrasound and multiple resonance imaging description of aortic root diameter
Additional cardiac investigations
Time frame: 3 years
ECG-QT interval
2 secondary outcomes
Specific treatment for inherited metabolic diseases
Time frame: 3 years
Gender (Male/Female)
Time frame: Day 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Dec 2024.
- Results publication: PubMed 32811506Gariani 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.
- Article open-accessLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Metabolism, Inborn Errors, run by University of Lausanne at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Specific diagnosis of Inborn Errors of Metabolism listed by their frequency (time frame: Day 1). The study lists 15 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04999566, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Dec 2024.