Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Full Title of Study: “Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism”
- Study Type: Observational
- Study Design
- Time Perspective: Prospective
- Study Primary Completion Date: March 1, 2022
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.
- Biological: Blood samples
- Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.
Arms, Groups and Cohorts
- Patient with a diagnosis of incomplete form of albinism
Clinical Trial Outcome Measures
- Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes
- Time Frame: Enrollment
- the prevalence of finding at least two pathogenic variants is 10%.
Participating in This Clinical Trial
- 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.
- Refusal to participate in research protocol.
Gender Eligibility: All
Minimum Age: N/A
Maximum Age: N/A
Are Healthy Volunteers Accepted: No
- Lead Sponsor
- University Hospital, Bordeaux
- Provider of Information About this Clinical Study
- Overall Contact(s)
- Eulalie LASSEAUX, 0557820193, firstname.lastname@example.org
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