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Albinism, Ocular clinical trials

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NCT ID: NCT06345976 Not yet recruiting - Albinism, Ocular Clinical Trials

Functional Impairment in Albinism

PLAIB
Start date: May 2024
Phase:
Study type: Observational

Albinism is a genetic and hereditary anomaly that affects pigmentation. This pathology is characterized by a deficit in melanin production. In humans, the clinical diagnosis of albinism is based on a number of factors, including : - In the integumentary region: fair skin tone, with white hair, eyelashes and eyebrows. - Ophthalmological: reduced visual acuity, photophobia, nystagmus, transilluminated blue irises, hypopigmentation of the retina at the back of the eye with fovea plana. As treatment options begin to emerge for certain albinism-induced anomalies (including, for example, the depigmentation that causes photophobia), it is desirable to understand what these patients' complaints are, and to gather their views on the emergence of treatments targeting just one of their complaints, namely glare.

NCT ID: NCT04495218 Recruiting - Albinism, Ocular Clinical Trials

NGS Panel of Incomplete Forms of Ocular Albinism

DIA
Start date: November 23, 2020
Phase:
Study type: Observational

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

NCT ID: NCT03959605 Completed - Albinism, Ocular Clinical Trials

Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

ALAFOR
Start date: January 6, 2019
Phase:
Study type: Observational

Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme

NCT ID: NCT02200263 Completed - Clinical trials for Oculocutaneous Albinism (OCA)

The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism

LUVIA
Start date: November 2014
Phase: N/A
Study type: Interventional

The LUVIA study is a randomized placebo-controlled trial designed to investigate the effects of lutein and zeaxanthin supplementation on macular pigment and visual function in ocular or oculocutaneous albinism. Lutein and zeaxanthin supplementation will be compared to a placebo (no treatment) gel pill over the period of 12 months, with study visits approximately every 3 months for the first year and a final visit 18 months after enrollment.

NCT ID: NCT00001153 Completed - Albinism Clinical Trials

Visual Function and Ocular Pigmentation in Albinism

Start date: June 1976
Phase: N/A
Study type: Observational

To study the relationship between visual function and ocular (iris, retina/choroidal) pigmentation in patients with albinism and other hypomelanotic disorders. To identify the carrier state in relatives of patients with ocular albinism.