An observational study in Albinism, Ocular, sponsored by University Hospital, Bordeaux. Completed at 1 site in France. Open to participants aged 0 Years and older. Per ClinicalTrials.gov, last updated 2024-09-19.
Sponsored by University Hospital, Bordeaux · Observational
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.
17 studies on the registry are indexed under Albinism; 8 are open to participants now.
This study's enrollment of 53 is below the median of 140 across 10 observational studies indexed under Albinism.
Browse Albinism studies →University Hospital, Bordeaux is the lead sponsor of 806 studies on the registry; 197 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patient with 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 and having a specialized consultation in CHU de Bordeaux
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biological: Blood samples
Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.
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%.
Time frame: Enrollment
This study is completed, as verified in Sep 2024. You cannot join it, but the record below documents what was studied.
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University Hospital, Bordeaux →