Rare DiseasesNCT04315727
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
A study testing WGS Diagnostic Blood take for genetic diagnostic. and Hair collection in people with Rare Diseases and Genetic Predisposition to Disease, run by University Hospital Tuebingen at 2 sites in Germany.
Trial summary
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Genetic Predisposition to Disease
- What is being tested?
- WGS Diagnostic Blood take for genetic diagnostic. and Hair collection
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 2 sitesGermany
- Study dates
- 1 Feb 2021to Dec 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
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
Who may be able to join
- Unclear diagnosis
- Suspected genetic cause of the disease
- Previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism
- Healthy parents of those affected for trio analysis (exception of one parent is not available for the study)
Who cannot join
- Missing informed consent of the patient and her/his parents
Trial locations and contacts
2 sites in 1 country.
Germany2 sites, 2 recruiting
- Not yet recruiting
University Hospital Tübingen
Tübingen, 72076
Olaf Rieß, Prof. Dr., +49 7071 29 ext. 72323, olaf.riess@med.uni-tuebingen.de
Andreas Dufke, PD Dr., +49 7071 29 ext. 72190, andreas.dufke@med.uni-tuebingen.de
- Recruiting
University Hospital Tübingen
Tübingen, 72076
Olaf Rieß, Prof. Dr., +49 7071 29 ext. 72323, 0laf.riess@med.uni-tuebingen.de
Andreas Dufke, PD Dr., +49 7071 29 ext. 72190, andreas.dufke@med.uni-tuebingen.de
About this study
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. As well healthy parents of those affected for trio analysis (exception of one parent is not available for the study).
Read the detailed description
In the GENOME+ study (monocentric, prospective, open-label diagnostic study), patients with molecularly undiagnosed diseases will diagnostically be analyzed by means of omics technologies or re-analyzed using existing datasets. The following questions will be leading the study:
Primary:
- Identification of the molecular causes of unclear rare diseases
Secondary:
- Improve number of diagnoses for patients with rare diseases
- Further characterization of the identified putative disease causes
- Increase number of patients receiving appropriate therapy after successful diagnosis.
In addition, healthy parents of the subjects may be included in the study to perform parent-child (trio) analyses.
In addition, phenotype and omics data will be shared within the University Hospital Tübingen, Germany and with external collaborators to improve the diagnostic rate of the patients included in the study.
Storage of blood or tissue samples is not primary goal of this project, but may be necessary for further analyses.
- Conditions
- Rare Diseases, Genetic Predisposition to Disease
- Being tested
- WGS Diagnostic Blood take for genetic diagnostic., Hair collection
- Keywords
- Rare Diseases, Genetic Predisposition, Whole Exome Sequencing, Whole Genome Sequencing (WGS), WGS-trio analysis
- Medical subject headings
- Rare Diseases, Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
WGS Diagnostic Blood take for genetic diagnostic.Genetic
Blood sampling, shot clinical characterization, WGS based trio sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures), RNA Sequencing (RNA-seq).
Hair collectionGenetic
Hair including root will be collected from the scalp (~15-20) and transferred to cultivation medium for the organoid cultivation
| Study group | Role | What they receive |
|---|---|---|
| Study population | Other | Both underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease. In addition, healthy parents of volunteers will be recruited if available to facilitate Trio studies.
Study related procedures: Blood sampling, hair collection, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures, organoid cultivation). Receives: Genetic: WGS Diagnostic Blood take for genetic diagnostic.; Genetic: Hair collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of the molecular causes of unclear rare diseases
Number of molecular causes
Measured: Day 1
Secondary outcomes (3)
Diagnoses for patients with rare diseases
Number of diagnoses for patients with rare diseases
Measured: Day 1
Molecular characterization of putative disease causes
Identify molecular characterization of the putative disease causes
Measured: Day 1
Patients receiving appropriate therapy after successful diagnosis
Number of patients receiving appropriate therapy after successful diagnosis
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 posted19 Mar 2020
- Study start1 Feb 2021
- Primary completionJul 2024 (estimated)
- Study completionDec 2024 (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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Olaf Rieß, Study director, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04315727
- Sponsor's protocol ID
- GENOME +
- Status last verified
- Nov 2023
- First submitted
- 17 Mar 2020
- Last updated
- 29 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The GENOME+ study will provide data in a pseudonymized manner to national and international databases set up to increase the diagnostic yield through advanced analysis tools and matchmaking against other cohorts
Study at a glance
From the registry record, last updated by the sponsor on 29 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
- ClinicalTrials.gov ID
- NCT04315727
- Acronym / sponsor ID
- GENOME +
- Conditions
- Rare Diseases, Genetic Predisposition to Disease
- Keywords
- Rare Diseases, Genetic Predisposition, Whole Exome Sequencing, Whole Genome Sequencing (WGS), WGS-trio analysis
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 1 Feb 2021 (actual)
- Primary completion
- Jul 2024 (estimated)
- Study completion
- Dec 2024 (estimated)
- First posted
- 19 Mar 2020 (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.
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. As well healthy parents of those affected for trio analysis (exception of one parent is not available for the study).
Detailed description
In the GENOME+ study (monocentric, prospective, open-label diagnostic study), patients with molecularly undiagnosed diseases will diagnostically be analyzed by means of omics technologies or re-analyzed using existing datasets. The following questions will be leading the study:
Primary:
- Identification of the molecular causes of unclear rare diseases
Secondary:
- Improve number of diagnoses for patients with rare diseases
- Further characterization of the identified putative disease causes
- Increase number of patients receiving appropriate therapy after successful diagnosis.
In addition, healthy parents of the subjects may be included in the study to perform parent-child (trio) analyses.
In addition, phenotype and omics data will be shared within the University Hospital Tübingen, Germany and with external collaborators to improve the diagnostic rate of the patients included in the study.
Storage of blood or tissue samples is not primary goal of this project, but may be necessary for further analyses.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Study population | Other | Genetic: WGS Diagnostic Blood take for genetic diagnostic., Genetic: Hair collectionBoth underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease. In addition, healthy parents of volunteers will be recruited if available to facilitate Trio studies. Study related procedures: Blood sampling, hair collection, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures, organoid cultivation). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Unclear diagnosis
- Suspected genetic cause of the disease
- Previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism
- Healthy parents of those affected for trio analysis (exception of one parent is not available for the study)
Key exclusion criteria (1 listed)
- Missing informed consent of the patient and her/his parents
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 |
|---|---|---|
| WGS Diagnostic Blood take for genetic diagnostic.Blood sampling, shot clinical characterization, WGS based trio sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures), RNA Sequencing (RNA-seq). | Genetic | Study population |
| Hair collectionHair including root will be collected from the scalp (~15-20) and transferred to cultivation medium for the organoid cultivation | Genetic | Study population |
Primary outcome
Identification of the molecular causes of unclear rare diseases
Time frame: Day 1
Number of molecular causes
3 secondary outcomes
Diagnoses for patients with rare diseases
Time frame: Day 1
Molecular characterization of putative disease causes
Time frame: Day 1
Patients receiving appropriate therapy after successful diagnosis
Time frame: Day 1
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Nov 2023.
- Individual participant dataSharing planned: Yes. The GENOME+ study will provide data in a pseudonymized manner to national and international databases set up to increase the diagnostic yield through advanced analysis tools and matchmaking against other cohorts
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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. This study is not recruiting at the moment.
Olaf Rieß study director
University Hospital Tuebingen
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing WGS Diagnostic Blood take for genetic diagnostic. and Hair collection in people with Rare Diseases and Genetic Predisposition to Disease, run by University Hospital Tuebingen at 2 sites 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 4 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: status not confirmed, as of the sponsor's last update on 29 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Olaf Rieß, Prof. Dr. (+49 7071 29 ext. 72323, olaf.riess@med.uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of the molecular causes of unclear rare diseases (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 29 Nov 2023.