NGS Panel of Incomplete Forms of Ocular Albinism

Albinism, Ocular Clinical Trial

— DIA  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04495218
• Other study ID #: CHUBX 2019/52
• Status: Recruiting
• Start date: November 23, 2020
• Est. completion date: June 2024

Study information

• Verified date: June 2023
• Source: University Hospital, Bordeaux
• Contact: Vincent MICHAUD, Dr
• Phone: 0557820353
• Email: vincent.michaud[@]chu-bordeaux.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: June 2024
• Est. primary completion date: June 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Albinism
• Albinism, Ocular

Intervention

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

Locations

Country	Name	City	State
France	Centre Hospitalier Universitaire de Bordeaux	Bordeaux

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Country where clinical trial is conducted

France, 

Outcome

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