Rare DiseasesEXGEFATUNCT04731857
Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes
An observational study of Rare Diseases and Genetic Predisposition, run by University Hospital Tuebingen at 1 site in Germany.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Genetic Predisposition
- What is being tested?
- Retrospective data analysis
- How many people
- 12,000 participants
- Where
- 1 siteGermany
- Study dates
- 18 Feb 2021to Feb 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
University Hospital Tübingen
Tübingen, 72076
Haack Tobias, Dr., +49 7071 29 ext. 72696, tobias.haack@med.uni-tuebingen.de
Olaf Rieß, Prof. Dr., +49 7071 29 ext. 72323, olaf.riess@med.uni-tuebingen.de
About this study
Official title: Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes
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.
Read the 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.
- Conditions
- Rare Diseases, Genetic Predisposition
- Being tested
- Retrospective data analysis
- Keywords
- Rare Diseases, Genetic Predisposition, Next Generation Sequencing (NGS), Polygenic risk scores (PRSs), Repeat-Expansion, Genetic variation
- Medical subject headings
- Rare Diseases, Genetic Predisposition to Disease, Genetic Risk Score
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Retrospective data analysisGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: Retrospective data analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnosis
Number of established probable diagnosis using molecular genetic diagnostics
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Feb 2021
- Study start18 Feb 2021
- Primary completionFeb 2030 (estimated)
- Study completionFeb 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by University Hospital TuebingenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 12,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tobias Haack, Dr., Principal investigator, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04731857
- Sponsor's protocol ID
- EXGEFATU
- Acronym
- EXGEFATU
- Status last verified
- Apr 2026
- First submitted
- 26 Jan 2021
- Last updated
- 4 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes
- ClinicalTrials.gov ID
- NCT04731857
- Acronym / sponsor ID
- EXGEFATU / EXGEFATU
- Conditions
- Rare Diseases, Genetic Predisposition
- Keywords
- Rare Diseases, Genetic Predisposition, Next Generation Sequencing (NGS), Polygenic risk scores (PRSs), Repeat-Expansion, Genetic variation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 12,000 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 18 Feb 2021 (actual)
- Primary completion
- Feb 2030 (estimated)
- Study completion
- Feb 2031 (estimated)
- First posted
- 1 Feb 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genetic diseases | – | Genetic: Retrospective data analysisFor 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Retrospective data analysisThe 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. | Genetic | Genetic diseases |
Primary outcome
Diagnosis
Time frame: Day 1
Number of established probable diagnosis using molecular genetic diagnostics
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Tobias Haack, Dr. principal investigator
University Hospital Tuebingen
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases and Genetic Predisposition, run by University Hospital Tuebingen at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Tobias Haack, Dr. (+49 7071 298 ext. 77696, tobias.haack@med.uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnosis (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 May 2026.