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Functional Impairment in Albinism

NCT06345976 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-02-13

No results posted yet for this study

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.

Conditions

  • Albinism, Ocular

Interventions

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.

Sponsors & Collaborators

  • Fondation Ophtalmologique Adolphe de Rothschild

    lead NETWORK

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-10-01
Primary Completion
2025-10-01
Completion
2025-10-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06345976 on ClinicalTrials.gov