Ignite Creation Date:
2024-05-06 @ 10:18 AM
Last Modification Date:
2024-10-26 @ 12:28 PM
Study NCT ID:
NCT03222947
Status:
UNKNOWN
Last Update Posted:
2017-07-19
First Post:
2017-07-18
Brief Title:
New Variants Involved in Taybi-Linder Syndrome
Sponsor:
Hospices Civils de Lyon
Organization:
Hospices Civils de Lyon
Study Overview
Official Title:
Identification of New Genes Involved in the Taybi-Linder Syndrome
Status:
UNKNOWN
Status Verified Date:
2017-07
Last Known Status:
NOT_YET_RECRUITING
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:
NewViTALS
Brief Summary:
Taybi-Linder syndrome TALS OMIM 210710 is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms MOPD This syndrome is characterized by short stature skeletal anomalies severe microcephaly with brain malformations and facial dysmorphism and is caused by mutations in RNU4ATAC Although RNU4ATAC-associated TALS is a recognizable phenotype an atypical presentation is sometimes observed thus expanding the clinical spectrum TALS-like phenotype
This study aims to identify new variants involved in Taybi-Linder syndrome and associated phenotypes ieTALS-like
This non interventional study will be performed on patients with no proven mutation of RNU4ATAC and their blood relatives 19 samples total by high throughput sequencing and genetic analysis of already collected deoxyribonucleic acid samples
Altogether such a study will allow a better understanding of the molecular mechanisms responsible for the Taybi-Linder syndrome and Taybi-Linder syndrome-like phenotypes as well as the pathophysiology of these devastating forms of microcephalic dwarfism
This study aims to identify new variants involved in Taybi-Linder syndrome and associated phenotypes ieTALS-like
This non interventional study will be performed on patients with no proven mutation of RNU4ATAC and their blood relatives 19 samples total by high throughput sequencing and genetic analysis of already collected deoxyribonucleic acid samples
Altogether such a study will allow a better understanding of the molecular mechanisms responsible for the Taybi-Linder syndrome and Taybi-Linder syndrome-like phenotypes as well as the pathophysiology of these devastating forms of microcephalic dwarfism
Detailed Description:
None
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