Functional Impairment in Albinism

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.

Recruiting

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Key information

Conditions

Albinism, Ocular Albinism Amino Acid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hypopigmentation Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pigmentation Disorders Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital Fondation A. de Rothschild

Paris, 75019, France

Location status: Recruiting

Location contact

Raphaël Lejoyeux

CONTACT

[email protected]

+33148036437

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Questionnaire

Other

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.

Primary outcomes

To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity.

Time frame: 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?"

Study contacts

Contact information is provided by the study sponsor or research team.

Amélie Yavchitz

CONTACT

[email protected]

+33148036454

Sponsors and collaborators

Lead sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Network

Registry information

Acronym: PLAIB

Important dates

Study start: 2024
Primary completion: 2025
Study completion: 2025
First posted: Apr 3, 2024
Registry last updated: Feb 13, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed