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โ† Trials
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Building of a Diagnostic/Prognostic Database for Human ERG Variant Effects

Recruitingn/aAges any - anyAllNantes University Hospital
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In plain words

What the trial is, and whether it could suit you

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

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Patients carrier of a mutation in KCNH2 gene Exclusion Criteria: * Patients who refuse to take part to research
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What it tests

  • Not listed
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Where

2 sites
Nantes university hospital
Nantes, France
Hรดpital Bichat - Claude Bernard
Paris, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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