Rare DiseasesDiRiP-RDNCT03491280
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
An observational study of Rare Diseases and Genetic Predisposition, run by University Hospital Tuebingen at 1 site in Germany.
Trial summary
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT or cooperating location, NGS analyzes and other omics analyzes (transcriptomics… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Genetic Predisposition
- What is being tested?
- NGS Diagnostic
- How many people
- 5,500 participants
- Where
- 1 siteGermany
- Study dates
- 1 May 2018to Apr 2025
- Phase
- Observational
- 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
Study population: This study recruit both underage and adult persons (male and female) with unclear genetic syndromes who present themselves for consultation at the UKT and who are suspected of having a genetic cause of the disease.
Who may be able to join
- Unclear diagnosis
- Suspected genetic cause of the disease
Who cannot join
- Missing informed consent of the patient/ legal guardian
Trial locations and contacts
1 site in 1 country.
Germany1 site, 1 recruiting
- Recruiting
University Hospital
Tübingen, 72076
Ludger Schoels, Prof. Dr., +49 (0)7071 ext. 2982057, ludger.schoels@uni-tuebingen.de
Olaf Rieß, Prof. Dr., +49 (0)7071 ext. 2972323, olaf.riess@med.uni-tuebingen.de
About this study
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT or cooperating location, NGS analyzes and other omics analyzes (transcriptomics, proteomics, metabolomics), functional cell biology studies will be performed. In group 2 diagnostics is already performed.
The DiRiP-study fully integrates with the newly formed European Reference Networks (ERNs) for rare diseases, and in particular the ERN-RND, -EURO-NMD, -ITHACA, and -GENTURIS.
Read the detailed description
In the DiRiP-RD study (monocentric, prospective, open-label diagnostic study), patients with genetically unexplained diseases will be analyzed or re-analyzed from existing datasets for further omics analysis. These are evaluated with regard to the following questions:
Primary:
- Verification of the genetic causes of unclear genetic diseases
Secondary:
- Improve number of diagnoses of unclear syndromes
- Further characterization of the identified gene defects
- Number of patients receiving appropriate therapy after successful diagnosis. In addition, patient phenotype and genotype data can be collected using a software tool for collecting and analyzing phenotypic information of patients with genetic disorders ( PhenoTips®) software to facilitate data exchange within the UKT, with external collaborators and data transfer to the Solve-RD project.
- Conditions
- Rare Diseases, Genetic Predisposition
- 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 |
|---|---|---|
| Group 1 | Subjects with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location, genetic diagnostic (NGS diagnostic) must be performed. Receives: Genetic: NGS Diagnostic | |
| Group 2 | Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed. Receives: Genetic: NGS Diagnostic |
What is being measured
The primary outcome is the main question the study is designed to answer.
Molecular genetic
Verification of the genetic causes of unclear genetic diseases
Measured: Day 1
Secondary outcomes (3)
Number of diagnoses
Improve number of diagnoses of unclear syndromes
Measured: Day 1
Characterization of gene defects
Further characterization of the identified gene defects
Measured: Day 1
Number of 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 posted9 Apr 2018
- Study start1 May 2018
- Primary completionApr 2023 (estimated)
- Study completionApr 2025 (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
- Other
- Enrolment
- 5,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Prof. Dr. Ludger Schöls, University Hospital Tuebingen
- Investigators
- Holm Graessner, Dr., Study chair, Managing Director
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03491280
- Sponsor's protocol ID
- DiRiP-RD
- Acronym
- DiRiP-RD
- Status last verified
- May 2022
- First submitted
- 20 Dec 2017
- Last updated
- 23 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
- ClinicalTrials.gov ID
- NCT03491280
- Acronym / sponsor ID
- DiRiP-RD / DiRiP-RD
- Conditions
- Rare Diseases, Genetic Predisposition
- Keywords
- Rare Diseases, Genetic Predisposition, Omics Technology, Next Generation Sequencing (NGS)
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 5,500 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 1 May 2018 (actual)
- Primary completion
- Apr 2023 (estimated)
- Study completion
- Apr 2025 (estimated)
- First posted
- 9 Apr 2018 (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 DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT or cooperating location, NGS analyzes and other omics analyzes (transcriptomics, proteomics, metabolomics), functional cell biology studies will be performed. In group 2 diagnostics is already performed.
The DiRiP-study fully integrates with the newly formed European Reference Networks (ERNs) for rare diseases, and in particular the ERN-RND, -EURO-NMD, -ITHACA, and -GENTURIS.
Detailed description
In the DiRiP-RD study (monocentric, prospective, open-label diagnostic study), patients with genetically unexplained diseases will be analyzed or re-analyzed from existing datasets for further omics analysis. These are evaluated with regard to the following questions:
Primary:
- Verification of the genetic causes of unclear genetic diseases
Secondary:
- Improve number of diagnoses of unclear syndromes
- Further characterization of the identified gene defects
- Number of patients receiving appropriate therapy after successful diagnosis. In addition, patient phenotype and genotype data can be collected using a software tool for collecting and analyzing phenotypic information of patients with genetic disorders ( PhenoTips®) software to facilitate data exchange within the UKT, with external collaborators and data transfer to the Solve-RD project.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group 1 | – | Genetic: NGS DiagnosticSubjects with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location, genetic diagnostic (NGS diagnostic) must be performed. |
| Group 2 | – | Genetic: NGS DiagnosticSubjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study recruit both underage and adult persons (male and female) with unclear genetic syndromes who present themselves for consultation at the UKT and who are suspected of having a genetic cause of the disease.
Key inclusion criteria (2 listed)
- Unclear diagnosis
- Suspected genetic cause of the disease
Key exclusion criteria (1 listed)
- Missing informed consent of the patient/ legal guardian
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 | Group 1, Group 2 |
Primary outcome
Molecular genetic
Time frame: Day 1
Verification of the genetic causes of unclear genetic diseases
3 secondary outcomes
Number of diagnoses
Time frame: Day 1
Characterization of gene defects
Time frame: Day 1
Number of 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 23 May 2022.
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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.
Holm Graessner, Dr. study chair
Managing Director
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 2 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 23 May 2022. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Holm Graessner, Dr. (+49 (0)7071/29-85944, holm.graessner@med.uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Molecular genetic (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 23 May 2022.