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Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes (EXGEFATU)

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ClinicalTrials.gov Identifier: NCT04731857
Recruitment Status : Recruiting
First Posted : February 1, 2021
Last Update Posted : March 1, 2021
Sponsor:
Information provided by (Responsible Party):
University Hospital Tuebingen

Study Description
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Brief Summary:
For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.

Condition or disease Intervention/treatment
Rare Diseases Genetic Predisposition Genetic: Retrospective data analysis

Detailed Description:
The methodological developments of the last few years allow the broad use of next-generation-sequencing (NGS) -based methods in the routine molecular genetic diagnosis of genetic diseases.The aim of the retrospective data analysis is to create a solid data basis for further discussion regarding the development and mapping of diagnostic algorithms and subsequent supply routes. For the genome data, this evaluation is to be expanded to include the evaluation of the Polygenic risk scores (PRSs) in the sense of an additional finding.
Study Design
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Study Type : Observational
Estimated Enrollment : 12000 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes
Actual Study Start Date : February 18, 2021
Estimated Primary Completion Date : April 2023
Estimated Study Completion Date : October 2023

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
Genetic diseases
For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.
 Genetic: Retrospective data analysis
The outlined evaluation contributes to the improvement of molecular genetic diagnostics in patient care - for example when which diagnostics can be sensibly recommended for patients with which indications or not. Diagnostic gaps can be systematically evaluated and specifically addressed in the future. This potentially affects every examination assignment for current and future patients. In addition, the evaluation of the PRSs for example, can contribute significantly to the timely introduction to routine diagnostics. For familial breast cancer, according to the guidelines, there may be very specific preventive measures. Estimates currently assume up to 5% of patients, which would mean up to 25 cases per year with a potentially adapted management for patients with the question of a tumor disease alone.


Outcome Measures
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Primary Outcome Measures :
  1. Diagnosis [ Time Frame: Day 1 ]
    Number of established probable diagnosis using molecular genetic diagnostics


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with genetic diseases of any age and, if present, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen.
Criteria

Inclusion Criteria:

  • Patient with genetic disease or
  • Family members
  • Genetic analysis between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen

Exclusion Criteria:

- None

Contacts and Locations
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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): NCT04731857


Contacts
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Contact: Tobias Haack, Dr. +49 7071 298 ext 77696 tobias.haack@med.uni-tuebingen.de
Contact: Olaf Rieß, Prof. Dr. +49 7071 298 ext 72288 olaf.riess@med.uni-tuebingen.de

Locations
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Germany
University Hospital Tübingen Recruiting
Tübingen, Germany, 72076
Contact: Haack Tobias, Dr.    +49 7071 29 ext 72696    tobias.haack@med.uni-tuebingen.de   
Contact: Olaf Rieß, Prof. Dr.    +49 7071 29 ext 72323    olaf.riess@med.uni-tuebingen.de   
Sponsors and Collaborators
University Hospital Tuebingen
Investigators
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Principal Investigator: Tobias Haack, Dr. University Hospital Tübingen
More Information
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Responsible Party: University Hospital Tuebingen
ClinicalTrials.gov Identifier: NCT04731857    
Other Study ID Numbers: EXGEFATU
First Posted: February 1, 2021    Key Record Dates
Last Update Posted: March 1, 2021
Last Verified: February 2021
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 University Hospital Tuebingen:
Rare Diseases
Genetic Predisposition
Next Generation Sequencing (NGS)
 Polygenic risk scores (PRSs)
Repeat-Expansion
Genetic variation
Additional relevant MeSH terms:
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Neoplastic Syndromes, Hereditary
Rare Diseases
Disease Susceptibility
Genetic Predisposition to Disease
 Disease Attributes
Pathologic Processes
Neoplasms
Genetic Diseases, Inborn