Study of Retinal Vascular Parameters in Patients With Wilson's Disease (WILLY)

The rare disease reference center " Wilson disease and other rare copper-related diseases" of the Rothschild Foundation follows a large number of patients with Wilson's with varying degrees of impairment and located at different times of their care.

Many people with Wilson's disease have a characteristic greenish-brown ring, known as Kayser-Fleischer, appearing at the periphery of the cornea due to a deposit of copper at the Descemet membrane. As a general rule, if the patient is compliant with his treatment, the ring usually disappears within a few years, although it may persist in some patients. However, apart from the stage of diagnosis, and the evolution of the ring, ophthalmological examinations are little used for the follow-up of these patients.

The objective of this study is to describe the retinal parameters, in particular vascular with two new retinal imaging technologies (OCT-A :Optical Coherence Tomography-Angiography , Adaptive optics) in patients with Wilson's disease and to correlate them with the parameters of the usual follow-up of these patients (hepatic assessment, exchangeable plasma copper, neurological scores, compliance, etc.).

Study Overview

• Status: Completed
• Conditions: Wilson Disease
• Intervention / Treatment: Procedure: Ophthalmological exam

• Study Type: Interventional
• Enrollment (Actual): 124
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75019
    • Hôpital Fondation A. de Rothschild

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Wilson's disease with Ferenci score ≥4

Exclusion Criteria:

• Neurological or behavioral handicap that does not allow for ophthalmological examinations
• Hepatic decompensation that does not allow for ophthalmological examinations
• Pregnant or breastfeeding woman

Study Plan

How is the study designed?

Design Details

• Primary Purpose: OTHER
• Allocation: NA
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
EXPERIMENTAL: Ophthalmological exam	Procedure: Ophthalmological exam; Retinophotography, OCT-A (Optical Coherence Tomography- Angiography), OCT-B scan (Optical Coherence Tomography B Scan), Measurement of corrected visual acuity in ETDRS (Early Treatment Diabetic Retinopathy Study), Measurement of intraocular pressure, adaptive optics

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Measuring the width of the Kayser-Fleischer ring	OCT-B scan	Enrollment
Corrected visual acuity measurement	ETDRS	Enrollment
Intraocular pressure measurement (mmHg)		Enrollment
Measurement of the thickness of the retinal nerve fibers layer (RNFL)	OCT-B	Enrollment
Measurement of the central avascular zone (in µm2)	OCT-A	Inclusion
Measurement of the capillary density of the superficial plexus (in%)	OCT-A	Enrollment
Measurement of the capillary density of the deep plexus (in%)	OCT-A	Enrollment
Measurement of photoreceptor density (per mm2)	Adaptive optics	Enrollment
Measurement of wall to lumen ratio (in %)	Adaptive optics	Enrollment
Measurement of the arterial wall section area (µm²)	Adaptive optics	Enrollment
Measurement of the diameter of the arterial lumen (µm)	Adaptive optics	Enrollment

Collaborators and Investigators

• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild
• Investigators: Principal Investigator: Aurélia Poujois, MD, Fondation A. de Rothschild

Study record dates

Study Major Dates

• Study Start (ACTUAL): June 4, 2020
• Primary Completion (ACTUAL): January 6, 2022
• Study Completion (ACTUAL): February 15, 2022

Study Registration Dates

• First Submitted: May 26, 2020
• First Submitted That Met QC Criteria: May 26, 2020
• First Posted (ACTUAL): May 29, 2020

Study Record Updates

• Last Update Posted (ACTUAL): March 3, 2022
• Last Update Submitted That Met QC Criteria: March 2, 2022
• Last Verified: March 1, 2022

More Information

Terms related to this study

• Keywords: Optical Coherence Tomography; Adaptive optics
• Additional Relevant MeSH Terms: Digestive System Diseases; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Liver Diseases; Genetic Diseases, Inborn; Basal Ganglia Diseases; Movement Disorders; Neurodegenerative Diseases; Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Metal Metabolism, Inborn Errors; Hepatolenticular Degeneration
• Other Study ID Numbers: APS_2020_5

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No