MedDataX Logo

Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)

NCT ID: NCT03464994

Last Updated: 2025-12-31

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

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

152 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-07-18

Study Completion Date

2022-06-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

Presence/absence of subclinical keratoconus with corneal topographic abnormalities (skewed radial axes for forme fruste keratoconus, and inferior steepening for keratoconus suspect) on axial specular topography (TMS-4 Tomey), and elevation topographies: Pentacam (Oculus) and Orbscan (Bausch \& Lomb).

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Background: Hereditary ichthyosis are rare genetic diseases characterized by an abnormal epithelial keratinization due to mutations in gene involved in skin barrier. Patients present with scales on the whole body. Recent classification basically distinguishes syndromic from non-syndromic forms. Ichthyoses are severe diseases with significant impact on quality of life, due to troublesome symptoms (pruritus, pain), lack of effective therapy and complications such as ophthalmological anomalies. Among ophthalmological abnormalities, some are well known, such as eyelid abnormalities, including ectropion, and sicca syndrome. Conversely, corneal abnormalities such as keratoconus are not or very partially described in ichthyosis. The keratoconus is characterized by a corneal thickening and bulging with progressive loss of vision that may require a corneal transplantation. Its prevalence is 0.05% in its symptomatic presentation but may reach 10% when considering subclinical keratoconus diagnosed on basis of corneal topographies. These forme fruste keratoconus or keratoconus suspect may remain subclinical or instead progress to severe keratoconus. Corneal collagen crosslinking has been shown to strengthen the cornea in order to halt progressive keratoconus, justifying the need for early screening. Keratoconus is a complex condition of multifactorial etiology. With regards to the pathophysiology of the keratoconus, some hypotheses incriminate the corneal epithelial differentiation that is similar to the epidermal differentiation altered in ichthyosis. This link between both dermatological and ophthalmological abnormalities is supported by clinical experience. It's was observed that ichthyosis patients have frequently a subclinical keratoconus. In clinical practice, ophthalmological abnormalities are not commonly investigated in ichthyosis patients and there are no data on prevalence in the literature. Furthermore, there are no guidelines on screening or therapy of ophthalmological abnormities in ichthyosis.

The purpose of this project is to demonstrate that the prevalence of subclinical keratoconus (including forme fruste keratoconus and keratoconus suspect) is higher in ichthyosis compared to healthy controls.

Descriptive analysis of the studied population for primary outcome: The proportion of patients with subclinical keratoconus (including form fruste keratoconus and keratoconus suspect) will be described in each study-group and compared between study-groups using Mac Nemar Test.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Ichthyosis

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

Hereditary ichthyosis keratoconus

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

ichthyosis patients

patients presenting an Hereditary ichthyosis, whatever form or ongoing therapy will have an ophthalmological examination.

Group Type OTHER

ophthalmological examination

Intervention Type DIAGNOSTIC_TEST

* Refraction
* Best corrected visual acuity
* Intraocular pressure
* Slit lamp examination with vital dye (Oxford grading)
* Tear break-up time (TBUT)
* Schirmer I testing
* Specular (TMS-4 Tomey) and elevation (pentacam Oculus and Orbscan Bausch \& Lomb) corneal videotopographies
* Pachymetry
* Questionnaires: Ocular surface disease index, quality of vision (visual analogic scale), and quality of life (NEI-VFQ25)
* questionnaire about ichthyosis severity
* questionnaire about life quality specifically for patient presenting ichthyosis

control population

patient without ichthyosis disease and consulting an ophthalmologist for refractive surgery screening or systematic eye examination will have an ophthalmological examination

Group Type OTHER

ophthalmological examination

Intervention Type DIAGNOSTIC_TEST

* Refraction
* Best corrected visual acuity
* Intraocular pressure
* Slit lamp examination with vital dye (Oxford grading)
* Tear break-up time (TBUT)
* Schirmer I testing
* Specular (TMS-4 Tomey) and elevation (pentacam Oculus and Orbscan Bausch \& Lomb) corneal videotopographies
* Pachymetry
* Questionnaires: Ocular surface disease index, quality of vision (visual analogic scale), and quality of life (NEI-VFQ25)
* questionnaire about ichthyosis severity
* questionnaire about life quality specifically for patient presenting ichthyosis

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

ophthalmological examination

* Refraction
* Best corrected visual acuity
* Intraocular pressure
* Slit lamp examination with vital dye (Oxford grading)
* Tear break-up time (TBUT)
* Schirmer I testing
* Specular (TMS-4 Tomey) and elevation (pentacam Oculus and Orbscan Bausch \& Lomb) corneal videotopographies
* Pachymetry
* Questionnaires: Ocular surface disease index, quality of vision (visual analogic scale), and quality of life (NEI-VFQ25)
* questionnaire about ichthyosis severity
* questionnaire about life quality specifically for patient presenting ichthyosis

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

For ichthyosis population:

* Hereditary ichthyosis, whatever form or ongoing therapy.
* Parental permission for minors

For controls:

* Patients who consult an ophthalmologist for refractive surgery screening or systematic eye examination
* Parental permission for minors

Exclusion Criteria

For both populations:

* Patient who cannot stay seated
* Wearing contact lens within the last 7 days
* No social security
* Past medical history of corneal or eye surgery or eye condition (glaucoma, uveitis, keratoconus, retinal diseases)
* Impossibility to fill the questionnaires
Minimum Eligible Age

6 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Association for the development of research in Dermatology

UNKNOWN

Sponsor Role collaborator

University Hospital, Toulouse

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Juliette MAZEREEUW, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Toulouse

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University Hospital of Toulouse

Toulouse, , France

Site Status

Countries

Review the countries where the study has at least one active or historical site.

France

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

2017-A00605-48

Identifier Type: OTHER

Identifier Source: secondary_id

RC31/17/0067

Identifier Type: -

Identifier Source: org_study_id