Ignite Creation Date:
2025-12-25 @ 4:59 AM
Ignite Modification Date:
2025-12-26 @ 3:59 AM
Study NCT ID:
NCT04495218
Status:
COMPLETED
Last Update Posted:
2024-09-19
First Post:
2020-07-20
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
NGS Panel of Incomplete Forms of Ocular Albinism
Sponsor:
University Hospital, Bordeaux
Organization:
Study Overview
Official Title:
Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
Status:
COMPLETED
Status Verified Date:
2024-09
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:
DIA
Brief Summary:
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Detailed Description:
Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation, translucent irides and nystagmus. The molecular genetic lab at Bordeaux University Hospital is the national reference for the study of this disease. More than 1400 patients have been analyzed with a strategy including next-generation sequencing of the 19 known genes of albinism and array-CGH. Despite this thorough analysis, 25% of patients remain without molecular diagnosis. Our experience tells us that these patients often show an incomplete form of albinism with the presence of only few ophthalmologic signs. The molecular diagnosis is very challenging as the phenotype often overlaps with other ophthalmologic disorders.
Study Oversight
Has Oversight DMC:
False
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?:
False
Is an FDA AA801 Violation?: