Status:
UNKNOWN
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
Lead Sponsor:
University Hospital Tuebingen
Conditions:
Rare Diseases
Genetic Predisposition to Disease
Eligibility:
All Genders
Phase:
NA
Brief 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 an...
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-analyz...
Eligibility Criteria
Inclusion
- 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)
Exclusion
- Missing informed consent of the patient and her/his parents
Key Trial Info
Start Date :
February 1 2021
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 1 2024
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT04315727
Start Date
February 1 2021
End Date
December 1 2024
Last Update
November 29 2023
Active Locations (2)
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1
University Hospital Tübingen
Tübingen, Germany, 72076
2
University Hospital Tübingen
Tübingen, Germany, 72076