Genetic Autopsy and Sudden Death

NCT02920203 | Unknown

• 1 other identifier: NI 13007
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Sudden Death

Keywords

Sudden unexpected death; young subjects; molecular genetic autopsy; sequencing

Outcome Measures

Primary Outcomes (1)

• Comparison of sudden death elucidation rate obtained by high throughput sequencing (NGS) versus conventional autopsy (macroscopic and / or microscopic)

  Aim is to determine if elucidation rate of unexpected sudden death causes obtained by high throughput sequencing (NGS) is significantly better than conventional autopsy (macroscopic and / or microscopic) alone. Inclusion of a series of 100 consecutive and exhaustive cases (index cases) recruited by forensic institutes or pathology departements. Determine the rate of sudden death elucidation after NGS (after targeted capturing of 100 genes responsible for inherited cardiac diseases, including cardiomyopathy and electrical diseases) and comparison of sudden death elucidation rate obtained with conventional autopsy (macroscopic and microscopic) by chi 2 analysis.

  27 months

Secondary Outcomes (3)

• Describe the epidemiology of causes of sudden death

  27 months

• Comparison of elucidation rates of cause of sudden death including systematic cardiac screening in relatives

  39 months

• Medico-economic modeling of the various diagnostic approaches

  39 months

Study Arms (2)

index cases group

unexpected sudden death cases recruited by forensic institutes or pathology departements

Genetic: Heart and spleen tissue

first degree relatives group

Relatives enrolled of unexpected sudden death index cases

Interventions

Heart and spleen tissue GENETIC

genetic sequencing

index cases group

Eligibility Criteria

• Age: 2 Years - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Index cases enrolled: series of consecutive and exhaustive cases recruited by forensic institutes or pathology departements Relatives enrolled: as many as possible during the recruitment period

You may qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• Pathology department and forensic Institute, Raymond Poincaré hospital, Garches: collaborator
• Referal Center for Inherited cardiac diseases, Pitié Salpêtrière Hospital, Paris: collaborator
• Pitié-Salpêtrière Hospital: collaborator
• Clinical research Unit, Ambroise Paré Hospital, Boulogne Billancourt: collaborator
• Cardiogenetic and molecular and cellular myogenetic functionnal unit Pitié Salpêtrière hospital, Paris: collaborator
• Molecular and medical Virology Laboratory, Medical School, Reims: collaborator

Study Sites (1)

Raymond Poincaré hospital

Garches, 92380, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Heart and spleen tissue (from autopsy)

MeSH Terms

Conditions

Death, Sudden

Condition Hierarchy (Ancestors)

Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Geoffroy Lorin de la Grandmaison, Pr

  Assistance Publique Hoptiaux de Paris

  PRINCIPAL INVESTIGATOR

• Philippe Charron, MD, PhD

  +33 (0)1 42 16 13 47

  STUDY DIRECTOR

Central Study Contacts

Geoffroy Lorin de la Grandmaison, Pr

CONTACT

+33(0)1 47 10 76 90; g.lorin@aphp.fr

Philippe Charron, MD, PhD

CONTACT

+33 (0)1 42 16 13 47; philippe.charron@aphp.fr

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 7, 2016
• First Posted: September 30, 2016
• Study Start: October 11, 2017
• Primary Completion: September 1, 2020
• Study Completion: December 1, 2020
• Last Updated: November 6, 2017

Record last verified: 2017-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)