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Trial record 2 of 70 for:    molecular autopsy

Genetic Autopsy and Sudden Death (AGEMOS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02920203
Recruitment Status : Unknown
Verified November 2017 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was:  Recruiting
First Posted : September 30, 2016
Last Update Posted : November 6, 2017
Sponsor:
Collaborators:
Pathology department and forensic Institute, Raymond Poincaré hospital, Garches
Referal Center for Inherited cardiac diseases, Pitié Salpêtrière Hospital, Paris
Pitié-Salpêtrière Hospital
Clinical research Unit, Ambroise Paré Hospital, Boulogne Billancourt
Cardiogenetic and molecular and cellular myogenetic functionnal unit Pitié Salpêtrière hospital, Paris
Molecular and medical Virology Laboratory, Medical School, Reims
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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

Condition or disease Intervention/treatment
Sudden Death Genetic: Heart and spleen tissue

Detailed Description:

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

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Autopsy and Sudden Death of Young Subject
Actual Study Start Date : October 11, 2017
Estimated Primary Completion Date : September 2020
Estimated Study Completion Date : December 2020

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
index cases group
unexpected sudden death cases recruited by forensic institutes or pathology departements
Genetic: Heart and spleen tissue
genetic sequencing

first degree relatives group
Relatives enrolled of unexpected sudden death index cases



Primary Outcome Measures :
  1. Comparison of sudden death elucidation rate obtained by high throughput sequencing (NGS) versus conventional autopsy (macroscopic and / or microscopic) [ Time Frame: 27 months ]

    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.



Secondary Outcome Measures :
  1. Describe the epidemiology of causes of sudden death [ Time Frame: 27 months ]

    Inclusion of a serie of consecutive and exhaustive subjects recruited by forensic institutes or pathology departements.

    Determination all the causes of death after conventional autopsy (unnatural, toxicological, non-cardiovascular, vascular, cardiological and coronary, cardiological and non-coronary causes such as cardiomyopathies & myocarditis, no cause identified Descriptive analysis. All quantitative data will be analyzed with the average, standard deviation and median.

    Frequencies and Clopper-Pearson confidence interval of 95% will be provided


  2. Comparison of elucidation rates of cause of sudden death including systematic cardiac screening in relatives [ Time Frame: 39 months ]

    Aim is to determine the impact of systematic family cardiac screening in the understanding of sudden deaths Comparison of elucidation rates of cause of sudden death according to three methods:

    i) identification of a hereditary heart disease via the systematic cardiac screening performed in relative; ii) by the conventional autopsy; iii) by sequencing NGS analysis; Statistics: test of McNemar (mated series). The threshold for level of statistical significance is chosen at 5 %.


  3. Medico-economic modeling of the various diagnostic approaches [ Time Frame: 39 months ]
    Cost-effectiveness modeling evaluation of medical and economic impact of the genetic molecular autopsy, efficacy being estimated by years of life saved in the family


Biospecimen Retention:   Samples With DNA
Heart and spleen tissue (from autopsy)


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Criteria

Index cases :

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 :

Inclusion Criteria:

  • 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

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): NCT02920203


Contacts
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Contact: Geoffroy Lorin de la Grandmaison, Pr +33(0)1 47 10 76 90 g.lorin@aphp.fr
Contact: Philippe Charron, MD, PhD +33 (0)1 42 16 13 47 philippe.charron@aphp.fr

Locations
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France
Raymond Poincaré hospital Recruiting
Garches, France, 92380
Contact: Geoffroy Lorin de la Grandmaison, Pr    +33(0)1 47 10 76 90    g.lorin@aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Pathology department and forensic Institute, Raymond Poincaré hospital, Garches
Referal Center for Inherited cardiac diseases, Pitié Salpêtrière Hospital, Paris
Pitié-Salpêtrière Hospital
Clinical research Unit, Ambroise Paré Hospital, Boulogne Billancourt
Cardiogenetic and molecular and cellular myogenetic functionnal unit Pitié Salpêtrière hospital, Paris
Molecular and medical Virology Laboratory, Medical School, Reims
Investigators
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Principal Investigator: Geoffroy Lorin de la Grandmaison, Pr Assistance Publique Hoptiaux de Paris
Study Director: Philippe Charron, MD, PhD +33 (0)1 42 16 13 47
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02920203    
Other Study ID Numbers: NI 13007
First Posted: September 30, 2016    Key Record Dates
Last Update Posted: November 6, 2017
Last Verified: November 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
Sudden unexpected death
young subjects
molecular genetic autopsy
sequencing
Additional relevant MeSH terms:
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Death
Death, Sudden
Pathologic Processes