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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04495218

Acronym

DIA

Enrollment

Registered

2020-07-31

Start date

2020-11-23

Completion date

2024-02-28

Last updated

2024-09-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Albinism, Ocular

Keywords

Next generation sequencing, Albinism

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.

Interventions

BIOLOGICALBlood samples

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

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

0 Years to No maximum

Healthy volunteers

Inclusion criteria

* Minor and adult patient. * Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm. * Registered for the social security system. * Informed consent signed by patient or parent of a minor patient.

Exclusion criteria

* Refusal to participate in research protocol.

Design outcomes

Primary

Measure	Time frame	Description
Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes	Enrollment	the prevalence of finding at least two pathogenic variants is 10%.

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026