Genetic Autopsy and Sudden Death

NCT ID: NCT02920203

Last Updated: 2017-11-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-10-11

Study Completion Date

2020-12-31

Brief Summary

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The purpose of the study is to better identify hereditary cardiac causes of sudden unexpected death in young subjects through Next-Generation Sequencing of autopsy tissue

Detailed Description

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Monitoring :

For index cases group, all the data will be monitored. For the relatives group, only the informed consent will be monitored

Statistical analysis :

* Evaluate the additional elucidation rate of unexpected sudden death
* Evaluate causes obtained by Next Generation Sequencing (NGS) ( in comparison with conventional autopsy (macroscopic and / or microscopic)
* Descriptive study of the causes of sudden unexpected death, identified hereditary cardiac causes percentages compared via various diagnostic approaches
* Cost-effectiveness analysis

Data Management :

A database is created for the AGEMOS study with control of the discrepancies. All the index cases' data entered in the data base will be double checked

Conditions

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Sudden Death

Keywords

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Sudden unexpected death young subjects molecular genetic autopsy sequencing

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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index cases group

unexpected sudden death cases recruited by forensic institutes or pathology departements

Heart and spleen tissue

Intervention Type GENETIC

genetic sequencing

first degree relatives group

Relatives enrolled of unexpected sudden death index cases

No interventions assigned to this group

Interventions

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Heart and spleen tissue

genetic sequencing

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Subjects of more than 2 years old and less than 41 years old
* Sudden unexpected death from natural and nontraumatic causes
* Macroscopic autopsy performed within 72 hours after death and without signs of body decomposition
* No extracardiac obvious causes, including toxicological analysis when available
* No significant coronary cause after autopsy (such as tight coronary stenosis, congenital abnormality of the arteries, coronary vasculitis)
* Informed consent of the close relation (family/reliable person) and / or legal representative

Relatives :


* To be a first degree relative (parents, sister, brother, child) of a deceased subject included in the AGEMOS study and accept to perform medical examination and transmit results of examination
Minimum Eligible Age

2 Years

Maximum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Pathology department and forensic Institute, Raymond Poincaré hospital, Garches

UNKNOWN

Sponsor Role collaborator

Referal Center for Inherited cardiac diseases, Pitié Salpêtrière Hospital, Paris

UNKNOWN

Sponsor Role collaborator

Pitié-Salpêtrière Hospital

OTHER

Sponsor Role collaborator

Clinical research Unit, Ambroise Paré Hospital, Boulogne Billancourt

UNKNOWN

Sponsor Role collaborator

Cardiogenetic and molecular and cellular myogenetic functionnal unit Pitié Salpêtrière hospital, Paris

UNKNOWN

Sponsor Role collaborator

Molecular and medical Virology Laboratory, Medical School, Reims

UNKNOWN

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Geoffroy Lorin de la Grandmaison, Pr

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique Hoptiaux de Paris

Philippe Charron, MD, PhD

Role: STUDY_DIRECTOR

+33 (0)1 42 16 13 47

Locations

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Raymond Poincaré hospital

Garches, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Geoffroy Lorin de la Grandmaison, Pr

Role: CONTACT

Phone: +33(0)1 47 10 76 90

Email: [email protected]

Philippe Charron, MD, PhD

Role: CONTACT

Phone: +33 (0)1 42 16 13 47

Email: [email protected]

Facility Contacts

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Geoffroy Lorin de la Grandmaison, Pr

Role: primary

Other Identifiers

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NI 13007

Identifier Type: -

Identifier Source: org_study_id