Functional Impairment in Albinism

NCT ID: NCT06345976

Last Updated: 2025-02-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-10-01

Study Completion Date

2025-10-01

Brief Summary

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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

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Conditions

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Albinism, Ocular

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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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.

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Hôpital Fondation A. de Rothschild

Paris, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Amélie Yavchitz

Role: CONTACT

+33148036454

Facility Contacts

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Raphaël Lejoyeux

Role: primary

+33148036437

Other Identifiers

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RLX_2023_10

Identifier Type: -

Identifier Source: org_study_id

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