Functional Impairment in Albinism

Recruiting

• Conditions: Albinism, Ocular

• Registration Number: NCT06345976
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-03-28
• Study First Submitted QC: 2024-03-28
• Study First Posted: 2024-04-03
• Study Start: 2024-10-01
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-11
• Last Update Posted: 2025-02-13
• Primary Completion: 2025-10-01
• Study Completion: 2025-10-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

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

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity.	Day0	To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity.; Percentage of positive responses to question "Would you be interested in the possibility of a treatment for glare if it did not improve the quality of vision or visual stability?"

Trial Locations

Locations (1)

Hôpital Fondation A. de Rothschild; 🇫🇷 Paris, France