Functional Impairment in Albinism

Recruiting now

Conditions studied: Albinism, Ocular

In brief

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.

Key facts

Study ID

NCT06345976

Run by

Fondation Ophtalmologique Adolphe de Rothschild

People needed

50

Starts

2024-10-01

Expected to finish

2025-10-01

Last updated by the study team

2025-02-13

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• All patients with albinism
• Patients > 18 years of age
• Non-opposition to study participation

You may not qualify if…

• No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of completing questionnaire

Where it is running

• Hôpital Fondation A. de Rothschild — Paris, France (enrolling)

Full record on ClinicalTrials.gov

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