Ignite Creation Date:
2024-05-06 @ 2:25 PM
Last Modification Date:
2024-10-26 @ 1:31 PM
Study NCT ID:
NCT04315727
Status:
RECRUITING
Last Update Posted:
2023-11-29
First Post:
2020-03-17
Brief Title:
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
Sponsor:
University Hospital Tuebingen
Organization:
University Hospital Tuebingen
Study Overview
Official Title:
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
Status:
RECRUITING
Status Verified Date:
2023-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 analysis like Whole Exome Sequencing WES did not lead to the identification of the disease causing mechanism As well healthy parents of those affected for trio analysis exception of one parent is not available for the study
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-analyzed using existing datasets The following questions will be leading the study
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None