IchthyosisNCT03464994
Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)
A study testing ophthalmological examination in people with Ichthyosis, run by University Hospital, Toulouse at 1 site in France.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Ichthyosis
- What is being tested?
- ophthalmological examination
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 152 participants
- Where
- 1 siteFrance
- Study dates
- 18 Jul 2017to 30 Jun 2022
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis
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).
Read the detailed description
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
- Ichthyosis
- Being tested
- ophthalmological examination
- Keywords
- Hereditary ichthyosis, keratoconus
- Medical subject headings
- Ichthyosis, Keratoconus
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ophthalmological examinationDiagnostic 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
| Study group | Role | What they receive |
|---|---|---|
| ichthyosis patients | Other | patients presenting an Hereditary ichthyosis, whatever form or ongoing therapy will have an ophthalmological examination. Receives: Diagnostic Test: ophthalmological examination |
| control population | Other | patient without ichthyosis disease and consulting an ophthalmologist for refractive surgery screening or systematic eye examination will have an ophthalmological examination Receives: Diagnostic Test: ophthalmological examination |
What is being measured
The primary outcome is the main question the study is designed to answer.
Presence/absence of subclinical keratoconus
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).
Measured: 10 mn
Secondary outcomes (5)
Presence/absence of symptomatic keratoconus with irregular topographic maps
Evaluation by corneal videotopographies
Measured: 10 mn
Presence/absence of an abnormality of corneal transparency
Evaluated by the measurement of the refraction,
Measured: 10 mn
Presence/absence of sicca syndrome
Examination with the slit lamp of eyelids and eyelashes
Measured: 10 mn
Evaluation of quality of vision
-Ocular Surface Disease Index (OSDI) : Self administered form to evaluate the impact of dry eye on visual function : 12 questions rated from 0 (never) to 4 (all the time)
Measured: 10 mn
Quality of life for adults
-Quality of life by the National Eye Institute Visual Function Questionnaire (NEI-VFQ) : Self-administered questionnaire witch incorporates a wider range of data in relation to quality of life related to vision. Each question leads to an answer that is either dichotomous (yes / no), or graduated in 3, 4.5 and 6 points. The score of each item is transformed from 0 to 100, and the average of the scores by domain is established.
Measured: 10 mn
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Mar 2018
- Study start18 Jul 2017
- Primary completion30 Jun 2022
- Study completion30 Jun 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for IchthyosisStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 152 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Collaborators
- Association for the development of research in Dermatology
- Responsible party
- Sponsor
- Investigators
- Juliette MAZEREEUW, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03464994
- Sponsor's protocol ID
- RC31/17/0067
- Other IDs
- 2017-A00605-48
- Status last verified
- Dec 2025
- First submitted
- 18 Nov 2017
- Last updated
- 31 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 31 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis
- ClinicalTrials.gov ID
- NCT03464994
- Acronym / sponsor ID
- RC31/17/0067
- Conditions
- Ichthyosis
- Keywords
- Hereditary ichthyosis, keratoconus
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 152 participants (actual)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Collaborators
- Association for the development of research in Dermatology
- Study start
- 18 Jul 2017 (actual)
- Primary completion
- 30 Jun 2022 (actual)
- Study completion
- 30 Jun 2022 (actual)
- First posted
- 14 Mar 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| ichthyosis patients | Other | Diagnostic Test: ophthalmological examinationpatients presenting an Hereditary ichthyosis, whatever form or ongoing therapy will have an ophthalmological examination. |
| control population | Other | Diagnostic Test: ophthalmological examinationpatient without ichthyosis disease and consulting an ophthalmologist for refractive surgery screening or systematic eye examination will have an ophthalmological examination |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Hereditary ichthyosis, whatever form or ongoing therapy.
- Parental permission for minors
- Patients who consult an ophthalmologist for refractive surgery screening or systematic eye examination
- Parental permission for minors
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 | Diagnostic test | control population, ichthyosis patients |
Primary outcome
Presence/absence of subclinical keratoconus
Time frame: 10 mn
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).
5 secondary outcomes
Presence/absence of symptomatic keratoconus with irregular topographic maps
Time frame: 10 mn
Presence/absence of an abnormality of corneal transparency
Time frame: 10 mn
Presence/absence of sicca syndrome
Time frame: 10 mn
Evaluation of quality of vision
Time frame: 10 mn
Quality of life for adults
Time frame: 10 mn
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Dec 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Juliette MAZEREEUW, MD principal investigator
University Hospital, Toulouse
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing ophthalmological examination in people with Ichthyosis, run by University Hospital, Toulouse at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 31 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Presence/absence of subclinical keratoconus (time frame: 10 mn). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Dec 2025.