Functional Impairment in Albinism

Albinism, Ocular Clinical Trial

— PLAIB  

Official title:

Functional Impairment in Albinism

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06345976
• Other study ID #: RLX_2023_10
• Status: Not yet recruiting
• Start date: May 2024
• Est. completion date: May 2025

Study information

• Verified date: March 2024
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 50
• Est. completion date: May 2025
• Est. primary completion date: May 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Albinism
• Albinism, Ocular

Intervention

Other:
• questionnaire
On-line self-questionnaire, in the form of an 18-question form, the link to which is sent by e-mail to patients with albinism who have agreed to take part in the study.

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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