Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
| Registry | NCT04495218, acronym DIA |
|---|---|
| Status | Completed |
| Study type | Observational |
| Enrollment | 53 (Actual) |
| Sponsor | University Hospital, Bordeaux (Other) |
| Conditions | Albinism, Ocular |
| Interventions | Blood samples (Biological) |
| Dates | start 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 in France |
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Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
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.
| Arm | Type | Interventions | Description |
|---|---|---|---|
| Patient with a diagnosis of incomplete form of albinism | Biological: Blood samples |
Sex: All, ages: 0 Years to any
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.
| Facility | City | Country | Status |
|---|---|---|---|
| Centre Hospitalier Universitaire de Bordeaux | Bordeaux | France |