Functional Impairment in Albinism (PLAIB)

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.

Study Overview

• Status: Recruiting
• Conditions: Albinism, Ocular
• Intervention / Treatment: Other: questionnaire

• Study Type: Observational
• Enrollment (Estimated): 50

Contacts and Locations

• Study Contact: Name: Amelie Yavchitz; Phone Number: +33148036454; Email: ayavchitz@for.paris

Study Locations

• France
  • Paris, France, 75019
    • Recruiting
    • Hôpital Fondation A. de Rothschild
    • Contact: Raphaël Lejoyeux; Phone Number: +33148036437; Email: rlejoyeux@for.paris

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients will be identified in the hospital's database, or may be contacted by patient associations.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity.	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?"	Day0

Collaborators and Investigators

• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2024
• Primary Completion (Estimated): October 1, 2025
• Study Completion (Estimated): October 1, 2025

Study Registration Dates

• First Submitted: March 28, 2024
• First Submitted That Met QC Criteria: March 28, 2024
• First Posted (Actual): April 3, 2024

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 11, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Eye Diseases; Skin Diseases; Eye Diseases, Hereditary; Hypopigmentation; Pigmentation Disorders; Skin Diseases, Genetic; Amino Acid Metabolism, Inborn Errors; Albinism; Albinism, Ocular
• Other Study ID Numbers: RLX_2023_10

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No