Skip to main content
OpenTrials
Completed

NCT Number: NCT04408300

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

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.).

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Wilson Disease Basal Ganglia Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Genetic Diseases, Inborn Hepatolenticular Degeneration Heredodegenerative Disorders, Nervous System Liver Diseases Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Movement Disorders Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hôpital Fondation A. de Rothschild

Paris, 75019, France

Who can participate

Healthy volunteers accepted: No

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

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

Treatment and study plan

Ophthalmological exam

Procedure

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

Primary outcomes

  1. Measuring the width of the Kayser-Fleischer ring

    Time frame: Enrollment

    OCT-B scan

  2. Corrected visual acuity measurement

    Time frame: Enrollment

    ETDRS

  3. Intraocular pressure measurement (mmHg)

    Time frame: Enrollment

  4. Measurement of the thickness of the retinal nerve fibers layer (RNFL)

    Time frame: Enrollment

    OCT-B

  5. Measurement of the central avascular zone (in µm2)

    Time frame: Inclusion

    OCT-A

  6. Measurement of the capillary density of the superficial plexus (in%)

    Time frame: Enrollment

    OCT-A

  7. Measurement of the capillary density of the deep plexus (in%)

    Time frame: Enrollment

    OCT-A

  8. Measurement of photoreceptor density (per mm2)

    Time frame: Enrollment

    Adaptive optics

  9. Measurement of wall to lumen ratio (in %)

    Time frame: Enrollment

    Adaptive optics

  10. Measurement of the arterial wall section area (µm²)

    Time frame: Enrollment

    Adaptive optics

  11. Measurement of the diameter of the arterial lumen (µm)

    Time frame: Enrollment

    Adaptive optics

Sponsors and collaborators

Lead sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Network

Registry information

Acronym: WILLY

Important dates

Study start
2020
Primary completion
2022
Study completion
2022
First posted
May 29, 2020
Registry last updated
Mar 3, 2022

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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.