Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
NCT ID: NCT04315727
Last Updated: 2023-11-29
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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RECRUITING
NA
100 participants
INTERVENTIONAL
2021-02-01
2024-12-31
Brief Summary
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Detailed Description
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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
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Study Design
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NA
SINGLE_GROUP
BASIC_SCIENCE
NONE
Study Groups
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Study population
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).
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).
Hair collection
Hair including root will be collected from the scalp (\~15-20) and transferred to cultivation medium for the organoid cultivation
Interventions
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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).
Hair collection
Hair including root will be collected from the scalp (\~15-20) and transferred to cultivation medium for the organoid cultivation
Eligibility Criteria
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Inclusion Criteria
* 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)
Exclusion Criteria
ALL
No
Sponsors
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University Hospital Tuebingen
OTHER
Responsible Party
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Principal Investigators
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Olaf Rieß
Role: STUDY_DIRECTOR
University Hospital Tübingen
Locations
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University Hospital Tübingen
Tübingen, , Germany
University Hospital Tübingen
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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GENOME +
Identifier Type: -
Identifier Source: org_study_id