Functional Impairment in Albinism

NCT06345976 | Recruiting

• 1 other identifier: RLX_2023_10
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• All patients with albinism
• Patients \> 18 years of age
• Non-opposition to study participation

You may not qualify if:

• No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of completing questionnaire

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Hôpital Fondation A. de Rothschild

Paris, 75019, France

RECRUITING

MeSH Terms

Conditions

Albinism, Ocular

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Amélie Yavchitz

CONTACT

+33148036454; ayavchitz@for.paris

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 28, 2024
• First Posted: April 3, 2024
• Study Start: October 1, 2024
• Primary Completion: October 1, 2025
• Study Completion: October 1, 2025
• Last Updated: February 13, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)