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Trial record 2 of 73 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

Tracking Information
First Submitted Date September 7, 2016
First Posted Date September 30, 2016
Last Update Posted Date November 6, 2017
Actual Study Start Date October 11, 2017
Estimated Primary Completion Date September 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: October 7, 2016)
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.
Original Primary Outcome Measures
 (submitted: September 28, 2016)
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). Determine the rate of sudden death elucidation after conventional autopsy (macroscopic and microscopic) Comparison of sudden death elucidation rate between the two approaches by chi 2 analysis.
Change History
Current Secondary Outcome Measures
 (submitted: September 28, 2016)
  • 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
  • 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 %.
  • 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
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Autopsy and Sudden Death
Official Title Genetic Autopsy and Sudden Death of Young Subject
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
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

Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Heart and spleen tissue (from autopsy)
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
Condition Sudden Death
Intervention Genetic: Heart and spleen tissue
genetic sequencing
Study Groups/Cohorts
  • index cases group
    unexpected sudden death cases recruited by forensic institutes or pathology departements
    Intervention: Genetic: Heart and spleen tissue
  • first degree relatives group
    Relatives enrolled of unexpected sudden death index cases
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: September 28, 2016)
300
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2020
Estimated Primary Completion Date September 2020   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years to 40 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT02920203
Other Study ID Numbers NI 13007
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Current Responsible Party Assistance Publique - Hôpitaux de Paris
Original Responsible Party Same as current
Current Study Sponsor Assistance Publique - Hôpitaux de Paris
Original Study Sponsor Same as current
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
Investigators
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
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date November 2017