Ignite Creation Date:
2024-05-06 @ 1:11 PM
Last Modification Date:
2024-10-26 @ 1:10 PM
Study NCT ID:
NCT03954652
Status:
COMPLETED
Last Update Posted:
2022-10-18
First Post:
2019-05-09
Brief Title:
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - GENOME FIRST APPROACH
Sponsor:
University Hospital Tuebingen
Organization:
University Hospital Tuebingen
Study Overview
Official Title:
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - GENOME FIRST APPROACH
Status:
COMPLETED
Status Verified Date:
2022-10
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 FIRST APPROACH project will enroll patients n 450 and their healthy parents with unclear molecular cause of the disease suspected genetic cause of the disease and the healthy parents of those affected for trio analysis N in total 1350
Detailed Description:
In the GENOME FIRST APPROACH monocentric prospective open-label diagnostic project patients with molecularly undiagnosed diseases will diagnostically be analyzed by Whole Genome Sequencing WGS-trio analysis The following questions will be leading the project
Primary
Efficacy of WGS trio analysis in different clinical indications
Secondary
Systematically benchmark WGS analysis to detect genetic variations compared to WES and single nucleotide polymorphism SNP array analysis
Expand the analysis from coding single-nucleotide variants SNVs to regulatory mutations structural variants SVs and low complexity regions
Validate the efficacy of clinical genome trio sequencing in a routine diagnostic setting
Analyse whether 42x coverage has the potential to discover mosaicism as disease causing mechanism
Further develop algorithms for integrative analyses of Trio-WGS data with Ribonucleic acid- sequencing RNA-seq
Identify de novo alterations and novel disease mechanisms
Gain fundamental new insights into disease mechanisms and cellular biology
Combine WGS with further Omics methods to improve genetic diagnostics of future rare disease patients and
Explore overall financial costs and time to report conclusive data to the patients of the Trio-WGS approach compared to traditional multistep diagnostic approaches using single-gene panel whole-exome sequencing WES and chromosomal microarray CMA SNP array array-based comparative genomic hybridization arrayCGH analysis
In addition healthy parents of the subjects will be included in the project to perform parent-child trio analyzes
Primary
Efficacy of WGS trio analysis in different clinical indications
Secondary
Systematically benchmark WGS analysis to detect genetic variations compared to WES and single nucleotide polymorphism SNP array analysis
Expand the analysis from coding single-nucleotide variants SNVs to regulatory mutations structural variants SVs and low complexity regions
Validate the efficacy of clinical genome trio sequencing in a routine diagnostic setting
Analyse whether 42x coverage has the potential to discover mosaicism as disease causing mechanism
Further develop algorithms for integrative analyses of Trio-WGS data with Ribonucleic acid- sequencing RNA-seq
Identify de novo alterations and novel disease mechanisms
Gain fundamental new insights into disease mechanisms and cellular biology
Combine WGS with further Omics methods to improve genetic diagnostics of future rare disease patients and
Explore overall financial costs and time to report conclusive data to the patients of the Trio-WGS approach compared to traditional multistep diagnostic approaches using single-gene panel whole-exome sequencing WES and chromosomal microarray CMA SNP array array-based comparative genomic hybridization arrayCGH analysis
In addition healthy parents of the subjects will be included in the project to perform parent-child trio analyzes
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