NCT06087367 Building of a Diagnostic/Prognostic Database for Human ERG Variant Effects
| NCT ID | NCT06087367 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Nantes University Hospital |
| Condition | Long QT Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 600 participants |
| Start Date | 2021-09-20 |
| Primary Completion | 2023-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 600 participants in total. It began in 2021-09-20 with a primary completion date of 2023-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Cardiac channelopathies induce severe heart rhythm or conduction disorders. Mutations of the KCNH2 gene, that encodes the human (h) ERG channel, is responsible for 30-40% of all cases of long QT syndrome (inherited LQT2). Besides, hERG is frequently responsible for off-target effects of several pharmacological agents (acquired LQT2). With the advent of Next Generation Sequencing, hundreds of new KCNH2 variants are accumulating in regional databases including those developed by french centers of references. Worldwide, we estimate there are more than 1000 variants for hERG channel. Unfortunately, many of these new variants appear to be of unknown functional significance in spite of available clinical and genetic information. Little is known on whether they affect the channel biophysical properties, its expression at the cell surface and/or its structure. Yet, this information is crucial to determine the real degree of pathogenicity of these variants, and therefore to make the proper diagnosis on inherited LQT2, counsel the patient for his treatment and improve the management of the patient's life. Our ambition is therefore to tackle this issue of variant significance by (i) launching a large-scale multi-functional evaluation of hERG variants, (ii) introducing for the first time a formatted large-scale pathogenicity annotation score for all variants that have been functionally evaluated by this multi-parametric approach, and (iii) regrouping all the relevant information collected in every French Regional centers of reference into a single National database hosted by an infrastructure that possesses enough flexibility for continuous data implementation and cross-referencing. The database will integrate the latest International guidelines for functional pathogenicity annotation. This project will also include the pharmacological characterization of several drugs susceptible to produce acquired LQT2 with variable severities. We aim to understand whether there are structural regions within hERG channel in which the introduction of a variant is more prone to increase the risk of acquired LQT2 or if, on the contrary, a set of variants may relatively protect some patients against LQT2-inducing drugs.
Eligibility Criteria
Inclusion Criteria: * Patients carrier of a mutation in KCNH2 gene Exclusion Criteria: * Patients who refuse to take part to research
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06087367 clinical trial?
This trial is open to participants of all sexes, studying Long QT Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06087367 currently recruiting?
Yes, NCT06087367 is actively recruiting participants. Contact the research team at vincent.probst@chu-nantes.fr for enrollment information.
Where is the NCT06087367 trial being conducted?
This trial is being conducted at Nantes, France, Paris, France.
Who is sponsoring the NCT06087367 clinical trial?
NCT06087367 is sponsored by Nantes University Hospital. The trial plans to enroll 600 participants.