FabryDEFYNCT03362645
Diagnostic Value of the Electrocardiogram in Fabry Disease
An observational study of Fabry, run by University Hospital, Caen.
Trial summary
Cardiac complications occur in 78% of patients with Fabry disease and are mainly characterized by a high frequency of left ventricular hypertrophy resulting from an accumulation of GL3 in cardiomyocytes. Apart from family screening, left ventricular hypertrophy is an important factor in the diagnosis of Fabry disease. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- Mar 2018to Oct 2019
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients aged > 18 years, with genetically confirmed Fabry disease complicated by LVH. Patients aged > 18 years, with sarcomeric hypertrophic cardiomyopathy.
Who may be able to join
- Patients aged > 18 years, with genetically confirmed Fabry disease complicated by LVH.
- Patients aged > 18 years, with sarcomeric hypertrophic cardiomyopathy.
Who cannot join
- Patients aged < 18 years. Sarcomeric hypertrophic cardiomyopathy for which Fabry disease has not been excluded by alpha-galactosidase A assay (in men) and genetic analysis (GLA gene mutation) in women.
About this study
Cardiac complications occur in 78% of patients with Fabry disease and are mainly characterized by a high frequency of left ventricular hypertrophy resulting from an accumulation of GL3 in cardiomyocytes. Apart from family screening, left ventricular hypertrophy is an important factor in the diagnosis of Fabry disease. This left ventricular hypertrophy is more often concentric and homogeneous, but it can also be asymmetric and mimic the patterns seen in so-called familial hypertrophic cardiomyopathies caused by mutations in the sarcomere protein genes. Electrocardiogram has been suggested as a screening tool for Fabry disease. Analysis of the PQ interval would be of interest. An algorithm has even been proposed to differentiate Fabry disease from amyloidosis with excellent sensitivity and specificity. The only criterion of left ventricular hypertrophy used in all studies is the Sokolov-Lyon index, but this index has many limitations and does not appear to be discriminatory for Fabry disease. Other validated criteria for left ventricular hypertrophy, such as the Cornell, Lewis, Gubner index or the Romhilt-Estes point score, have never been tested in Fabry disease. The primary objective of our study is to evaluate the diagnostic value of different electrocardiographic scores of left ventricular hypertrophy in Fabry disease.
- Conditions
- Fabry
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Fabry cardiomyopathy | Not described | |
| Hypertrophic cardiomyopathy | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Analysis of the PQ interval with a new algorithm
Determine whether electrocardiographic criteria of left ventricular hypertrophy allow to distinguish between Fabry disease and sarcomeric hypertrophic cardiomyopathy
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Dec 2017
- Study startMar 2018 (estimated)
- Primary completionMar 2019 (estimated)
- Study completionOct 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FabryStudies of the same condition, open and under way.
- More trials run by University Hospital, CaenThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Caen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03362645
- Sponsor's protocol ID
- 16-005
- Acronym
- DEFY
- Status last verified
- Nov 2017
- First submitted
- 29 Aug 2016
- Last updated
- 5 Dec 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Value of the Electrocardiogram in Fabry Disease
- ClinicalTrials.gov ID
- NCT03362645
- Acronym / sponsor ID
- DEFY / 16-005
- Conditions
- Fabry
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital, CaenUniversity, hospital or other
- Study start
- Mar 2018 (estimated)
- Primary completion
- Mar 2019 (estimated)
- Study completion
- Oct 2019 (estimated)
- First posted
- 5 Dec 2017 (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.
Cardiac complications occur in 78% of patients with Fabry disease and are mainly characterized by a high frequency of left ventricular hypertrophy resulting from an accumulation of GL3 in cardiomyocytes. Apart from family screening, left ventricular hypertrophy is an important factor in the diagnosis of Fabry disease. This left ventricular hypertrophy is more often concentric and homogeneous, but it can also be asymmetric and mimic the patterns seen in so-called familial hypertrophic cardiomyopathies caused by mutations in the sarcomere protein genes. Electrocardiogram has been suggested as a screening tool for Fabry disease. Analysis of the PQ interval would be of interest. An algorithm has even been proposed to differentiate Fabry disease from amyloidosis with excellent sensitivity and specificity. The only criterion of left ventricular hypertrophy used in all studies is the Sokolov-Lyon index, but this index has many limitations and does not appear to be discriminatory for Fabry disease. Other validated criteria for left ventricular hypertrophy, such as the Cornell, Lewis, Gubner index or the Romhilt-Estes point score, have never been tested in Fabry disease. The primary objective of our study is to evaluate the diagnostic value of different electrocardiographic scores of left ventricular hypertrophy in Fabry disease.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Fabry cardiomyopathy | – | – |
| Hypertrophic cardiomyopathy | – | – |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients aged > 18 years, with genetically confirmed Fabry disease complicated by LVH. Patients aged > 18 years, with sarcomeric hypertrophic cardiomyopathy.
Key inclusion criteria (2 listed)
- Patients aged > 18 years, with genetically confirmed Fabry disease complicated by LVH.
- Patients aged > 18 years, with sarcomeric hypertrophic cardiomyopathy.
Key exclusion criteria (1 listed)
- Patients aged < 18 years. Sarcomeric hypertrophic cardiomyopathy for which Fabry disease has not been excluded by alpha-galactosidase A assay (in men) and genetic analysis (GLA gene mutation) in women.
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
Analysis of the PQ interval with a new algorithm
Time frame: baseline
Determine whether electrocardiographic criteria of left ventricular hypertrophy allow to distinguish between Fabry disease and sarcomeric hypertrophic cardiomyopathy
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Dec 2017.
Related trials for Fabry
RecruitingPhase 3
A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease
Fabry Disease
RecruitingObservational study
A Study of Patients With Fabry Disease (US Specific)
Fabry Disease
RecruitingObservational study
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
Fabry Disease
Active, not recruiting
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
Fabry Disease
RecruitingPhase 3
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
Fabry Disease
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.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry, run by University Hospital, Caen.
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 2 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: status not confirmed, as of the sponsor's last update on 5 Dec 2017. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
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?
Analysis of the PQ interval with a new algorithm (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 5 Dec 2017.