Creating a database to understand the effects of KCNH2 gene variants in Long QT Syndrome
Building of a Diagnostic/Prognostic Database by High-throughput Multiplexed Assays for Human ERG Variant Effects
Nantes University Hospital · NCT06087367
This study is trying to create a database to help understand how changes in the KCNH2 gene affect people with Long QT Syndrome and improve their diagnosis and treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Sex | All |
| Sponsor | Nantes University Hospital (other) |
| Locations | 2 sites (Nantes, Loire-atlantique and 1 other locations) |
| Trial ID | NCT06087367 on ClinicalTrials.gov |
What this trial studies
This observational study aims to build a comprehensive diagnostic and prognostic database focused on the effects of variants in the KCNH2 gene, which is linked to Long QT Syndrome. By utilizing Next Generation Sequencing, the study will analyze numerous KCNH2 variants to determine their functional significance and impact on heart rhythm disorders. The goal is to enhance understanding of these variants' pathogenicity, which is essential for accurate diagnosis and treatment planning for affected patients.
Who should consider this trial
Good fit: Ideal candidates for this study are patients who carry a mutation in the KCNH2 gene.
Not a fit: Patients who do not have a mutation in the KCNH2 gene or refuse to participate in the research will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic accuracy and personalized treatment options for patients with Long QT Syndrome.
How similar studies have performed: While there is ongoing research into KCNH2 variants, this specific approach to building a comprehensive database is relatively novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients carrier of a mutation in KCNH2 gene Exclusion Criteria: * Patients who refuse to take part to research
Where this trial is running
Nantes, Loire-atlantique and 1 other locations
- Nantes university hospital — Nantes, Loire-atlantique, France (RECRUITING)
- Hôpital Bichat - Claude Bernard — Paris, France (RECRUITING)
Study contacts
- Study coordinator: Vincent Probst, PUPH
- Email: vincent.probst@chu-nantes.fr
- Phone: 0240165279
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Long QT Syndrome, Long QT syndrome, KCNH2 gene variants