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Trial record 63 of 74 for:    "Andersen-Tawil syndrome" OR "Long QT Syndrome"

CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death (IQARE-SCD)

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ClinicalTrials.gov Identifier: NCT03387072
Recruitment Status : Recruiting
First Posted : December 29, 2017
Last Update Posted : February 27, 2019
Sponsor:
Information provided by (Responsible Party):
Nantes University Hospital

Brief Summary:

Despite major progress in molecular and phenotypic characterization of primary electrical disorders, many (aborted) sudden cardiac deaths (SCD) occur in young victims without identifiable abnormalities. Investigator recently identified, in 4 families presenting unexplained SCD, a new arrhythmia entity (catecholamine-induced QT prolongation; CIQTP) characterized by normal QT duration at rest but major QT lengthening during mental stress test (MST).

Investigators aim to determine the prevalence of this new phenotype in unexplained SCD and identify its underlying pathophysiological mechanism.

More specifically, investigators aim to:

  • determine the prevalence of CIQTP in unexplained SCD and identify new affected families;
  • identify the role of mental stress in QT prolongation;
  • identify the genetics basis underlying this life threatening disease;
  • perform transcriptomic and electrophysiological profiling of induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) from CIQTP patients to identify putative biomarkers and pathophysiological mechanisms.

MST will be performed, additionally to the conventional screening, in families affected by unexplained SCD or long QT syndrome (LQTS) referred to university hospitals of Nantes, Rennes, Tours and Brest. Relevance of the MST on the different type of LQTS will be evaluated and compared to conventional provocative tests (epinephrine, exercise).

Whole-genome sequencing will first be performed in 3 distantly affected relatives within each of the 4 largest families identified. As previously performed in Nantes, analysis of the shared rare variants will allow identifying gene(s) associated with the disease.

Transcriptomic (high-throughput 3' Digital Gene Expression mRNA sequencing) and electrophysiological (96-well automated optical recordings of action potentials and patch-clamp recordings of ionic currents, using specific ion channel activators and inhibitors) profiling will be performed on iPSC-CMs from 2 affected and one unaffected first-degree relatives of these 4 large families.


Condition or disease Intervention/treatment
Sudden Cardiac Death Other: Non interventional study

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death
Actual Study Start Date : March 14, 2018
Estimated Primary Completion Date : October 23, 2019
Estimated Study Completion Date : October 23, 2019

Group/Cohort Intervention/treatment
Patients affected with CIQTP
Patients affected with catecholamine-induced QT prolongation (CIQTP)
Other: Non interventional study
mental stress test and Blood (or salivary) sample

Healthy relatives of patients affected with CIQTP
Healthy relatives of patients affected with CIQTP identified during the familial screening
Other: Non interventional study
mental stress test and Blood (or salivary) sample




Primary Outcome Measures :
  1. Number of families diagnosed with a CIQTP syndrome compared to the number of families who underwent a familial screening after a sudden cardiac death [ Time Frame: 12 months ]

Secondary Outcome Measures :
  1. Identification of genetics variants involved in the occurrence of CIQTP syndrome [ Time Frame: 24 months ]
  2. gene and ionic current expression modifications between healthy and affected relatives [ Time Frame: 24 months ]

Biospecimen Retention:   Samples With DNA
Blood sample (10mL ) for adult patient and teenagers and salivary sample for minor patients (under 12 years of age)


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population

Patients will be recruited by the Hereditary or rare heart rhythm disorders reference centre of the Nantes University Hospital, which specialises in the management of patients with sudden death risk pathologies and family screening. The reference centre works in network with the regional competence centres, including the Brest, Rennes and Tours University Hospital Centres.

Patients will be included in a cardiological consultation or day hospitalization as part of the family screening for sudden death. Family screening is carried out within the usual framework of patient care and in accordance with international recommendations.

Criteria

Inclusion Criteria:

  • Relatives seen for a familial screening after an unexplained sudden cardiac death in a young member of their family (<45 years old).
  • Patients affected with CIQTP characterized by normal QT duration at rest but major QT lengthening during mental stress test
  • Signed consent

Exclusion Criteria:

  • Patients who underwent a sudden cardiac death with an identified cause of the decease after an autopsy
  • Patients under trusteeship or under guardianship
  • Patients who didn't give their consent or who is not able to

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03387072


Contacts
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Contact: Jean-Baptiste GOURRAUD, Dr 02 40 16 51 43 jeanbaptiste.gourraud@chu-nantes.fr

Locations
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France
Brest University Hospital Recruiting
Brest, France, 29609
Contact: Jacques MANSOURATI, Dr       jacques.mansourati@chu-brest.fr   
Principal Investigator: Jacques MANSOURATI, Dr         
Nantes University Hospital Recruiting
Nantes, France, 44093
Contact: Jean-Baptiste GOURRAUD, Dr    02 40 16 51 43    jeanbaptiste.gourraud@chu-nantes.fr   
Principal Investigator: Jean-Baptiste GOURRAUD, Dr         
Rennes University Hospital Recruiting
Rennes, France, 35000
Contact: Philippe MABO, Pr       philippe.mabo@chu-rennes.fr   
Principal Investigator: Philippe MABO, Pr         
Tours University Hospital Recruiting
Tours, France, 37000
Contact: Dominique BABUTY, Pr         
Principal Investigator: Dominique BABUTY, Pr         
Sponsors and Collaborators
Nantes University Hospital
Investigators
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Principal Investigator: Jean-Baptiste GOURRAUD, Dr Nantes University Hospital

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Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT03387072     History of Changes
Other Study ID Numbers: RC17_0357
First Posted: December 29, 2017    Key Record Dates
Last Update Posted: February 27, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Nantes University Hospital:
Mental stress
Sudden cardiac death
arrhythmias
long QT syndrome

Additional relevant MeSH terms:
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Death, Sudden, Cardiac
Death
Pathologic Processes
Heart Arrest
Heart Diseases
Cardiovascular Diseases
Death, Sudden