Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
NCT ID: NCT03491280
Last Updated: 2022-05-23
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
5500 participants
OBSERVATIONAL
2018-05-01
2025-04-30
Brief Summary
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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.
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Detailed Description
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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
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Study Design
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COHORT
OTHER
Study Groups
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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.
NGS Diagnostic
Blood take for genetic diagnostic.
Group 2
Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed.
NGS Diagnostic
Blood take for genetic diagnostic.
Interventions
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NGS Diagnostic
Blood take for genetic diagnostic.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* Suspected genetic cause of the disease
Exclusion Criteria
ALL
No
Sponsors
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University Hospital Tuebingen
OTHER
Responsible Party
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Prof. Dr. Ludger Schöls
Principal investigator
Principal Investigators
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Holm Graessner, Dr.
Role: STUDY_CHAIR
Managing Director
Locations
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University Hospital
Tübingen, , Germany
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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DiRiP-RD
Identifier Type: -
Identifier Source: org_study_id
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