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

NCT04408300 | Completed

• 1 other identifier: APS_2020_5
• Study Type: interventional
• Target: 124
• Locations: 1 country
• Sites: 1

Brief Summary

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.).

Conditions

Wilson Disease

Keywords

Optical Coherence Tomography; Adaptive optics

Outcome Measures

Primary Outcomes (11)

• 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

Study Arms (1)

Ophthalmological exam

EXPERIMENTAL

Procedure: Ophthalmological exam

Interventions

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

Ophthalmological exam

Eligibility Criteria

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

You may qualify if:

• Wilson's disease with Ferenci score ≥4

You may not qualify if:

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

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Hôpital Fondation A. de Rothschild

Paris, 75019, France

Location

MeSH Terms

Conditions

Hepatolenticular Degeneration

Condition Hierarchy (Ancestors)

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

Study Officials

• Aurélia POUJOIS, MD

  Fondation A. de Rothschild

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 26, 2020
• First Posted: May 29, 2020
• Study Start: June 4, 2020
• Primary Completion: January 6, 2022
• Study Completion: February 15, 2022
• Last Updated: March 3, 2022

Record last verified: 2022-03

Locations

FR (1)