NCT04495218

NGS Panel of Incomplete Forms of Ocular Albinism

Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 53 (actual)
• Sponsor: University Hospital, Bordeaux · Academic / Other
• Sex: All
• Age: 0 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Albinism, Ocular

Interventions

Type	Name	Description
BIOLOGICAL	Blood samples	Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.

Timeline

• Start date: 2020-11-23
• Primary completion: 2024-02-28
• Completion: 2024-02-28
• First posted: 2020-07-31
• Last updated: 2024-09-19

Locations

1 site across 1 country: France