Rare DiseasesDISCO-TWINNCT04046796
Genetic Causes of Discrepant Clinic in Monogenic Twins
An observational study of Rare Diseases and Genetic Predisposition to Disease, run by University Hospital Tuebingen at 1 site in Germany.
Trial summary
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or re-analysed using existing datasets. 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?
- NGS Diagnostic
- How many people
- 50 participants
- Where
- 1 siteGermany
- Study dates
- 1 Dec 2019to Dec 2027
- 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: Twin pair monozygotic clinically (phenotypic) discordant twins
Who may be able to join
- Twin pair monozygotic clinically (phenotypic) discordant twins
- Unclear diagnosis
- Suspected (mono-)genetic cause of the disease in one twin
Who cannot join
- Missing informed consent of both twin/ legal representative
- No distinct phenotype
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
Jeannette Hübener-Schmid, Dr., +49 7071-297 ext. 2276, jeannette.huebener@med.uni-tuebingen.de
Andreas Dufke, PD Dr., +49 7071-297 ext. 2190, andreas.dufke@med.uni-tuebingen.de
About this study
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or re-analysed using existing datasets. Phenotype and omics data will be shared within the University Hospital Tübingen and with external collaborators to improve the diagnostic rate of the subjects included in the study.
- Conditions
- Rare Diseases, Genetic Predisposition to Disease
- Being tested
- NGS Diagnostic
- Keywords
- Rare Diseases, Genetic Predisposition, Omics Technology, Next Generation Sequencing (NGS)
- 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.
NGS DiagnosticGenetic
Also called Omics Technology
Blood take for genetic diagnostic.
| Study group | Role | What they receive |
|---|---|---|
| Healthy twin | Not described Receives: Genetic: NGS Diagnostic | |
| Effected Twin | Twin with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location. Receives: Genetic: NGS Diagnostic |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of new Candidate Genes
Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins
Measured: Day 1
Secondary outcomes (3)
Number of putative disease causes
Number characterizations of the identified putative disease causes.
Measured: Day 1
Number of diagnosis
Number of patients receiving appropriate therapy after successful diagnosis
Measured: Day 1
Number of molecular causes of diagnostically unclear rare diseases
Number of molecular causes of diagnostically unclear rare diseases
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 posted6 Aug 2019
- Study start1 Dec 2019
- Primary completionDec 2025 (estimated)
- Study completionDec 2027 (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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jeannette Hübener-Schmid, Dr., Principal investigator, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04046796
- Sponsor's protocol ID
- DISCO-TWIN
- Acronym
- DISCO-TWIN
- Status last verified
- Mar 2025
- First submitted
- 2 Aug 2019
- Last updated
- 30 Mar 2025
- 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 30 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Causes of Discrepant Clinic in Monogenic Twins
- ClinicalTrials.gov ID
- NCT04046796
- Acronym / sponsor ID
- DISCO-TWIN / DISCO-TWIN
- Conditions
- Rare Diseases, Genetic Predisposition to Disease
- Keywords
- Rare Diseases, Genetic Predisposition, Omics Technology, Next Generation Sequencing (NGS)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 1 Dec 2019 (actual)
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 6 Aug 2019 (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.
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or re-analysed using existing datasets. Phenotype and omics data will be shared within the University Hospital Tübingen and with external collaborators to improve the diagnostic rate of the subjects included in the study.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy twin | – | Genetic: NGS Diagnostic |
| Effected Twin | – | Genetic: NGS DiagnosticTwin with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Twin pair monozygotic clinically (phenotypic) discordant twins
Key inclusion criteria (3 listed)
- Twin pair monozygotic clinically (phenotypic) discordant twins
- Unclear diagnosis
- Suspected (mono-)genetic cause of the disease in one twin
Key exclusion criteria (2 listed)
- Missing informed consent of both twin/ legal representative
- No distinct phenotype
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 |
|---|---|---|
| NGS DiagnosticAlso: Omics TechnologyBlood take for genetic diagnostic. | Genetic | Effected Twin, Healthy twin |
Primary outcome
Number of new Candidate Genes
Time frame: Day 1
Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins
3 secondary outcomes
Number of putative disease causes
Time frame: Day 1
Number of diagnosis
Time frame: Day 1
Number of molecular causes of diagnostically unclear rare diseases
Time frame: Day 1
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 30 Mar 2025.
- 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.
Jeannette Hübener-Schmid, 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 to Disease, 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 2 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 30 Mar 2025. 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 Jeannette Hübener-Schmid, Dr. (+49 7071 29 ext. 72276, jeannette.huebener@med.uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of new Candidate Genes (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 30 Mar 2025.