Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)
Primary Purpose
Ichthyosis
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
ophthalmological examination
Sponsored by
About this trial
This is an interventional diagnostic trial for Ichthyosis focused on measuring Hereditary ichthyosis, keratoconus
Eligibility Criteria
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
Sites / Locations
- University Hospital of ToulouseRecruiting
Arms of the Study
Arm 1
Arm 2
Arm Type
Other
Other
Arm Label
ichthyosis patients
control population
Arm Description
patients presenting an Hereditary ichthyosis, whatever form or ongoing therapy will have an ophthalmological examination.
patient without ichthyosis disease and consulting an ophthalmologist for refractive surgery screening or systematic eye examination will have an ophthalmological examination
Outcomes
Primary Outcome Measures
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).
Secondary Outcome Measures
Presence/absence of symptomatic keratoconus with irregular topographic maps
Evaluation by corneal videotopographies
Presence/absence of an abnormality of corneal transparency
Evaluated by the measurement of the refraction,
Presence/absence of sicca syndrome
Examination with the slit lamp of eyelids and eyelashes
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)
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.
Full Information
NCT ID
NCT03464994
First Posted
November 18, 2017
Last Updated
March 7, 2018
Sponsor
University Hospital, Toulouse
Collaborators
Association for the development of research in Dermatology
1. Study Identification
Unique Protocol Identification Number
NCT03464994
Brief Title
Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)
Official Title
Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis
Study Type
Interventional
2. Study Status
Record Verification Date
March 2018
Overall Recruitment Status
Unknown status
Study Start Date
July 18, 2017 (Actual)
Primary Completion Date
July 18, 2018 (Anticipated)
Study Completion Date
July 18, 2018 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Toulouse
Collaborators
Association for the development of research in Dermatology
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
Brief 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).
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Ichthyosis
Keywords
Hereditary ichthyosis, keratoconus
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
152 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
ichthyosis patients
Arm Type
Other
Arm Description
patients presenting an Hereditary ichthyosis, whatever form or ongoing therapy will have an ophthalmological examination.
Arm Title
control population
Arm Type
Other
Arm Description
patient without ichthyosis disease and consulting an ophthalmologist for refractive surgery screening or systematic eye examination will have an ophthalmological examination
Intervention Type
Diagnostic Test
Intervention Name(s)
ophthalmological examination
Intervention Description
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
Primary Outcome Measure Information:
Title
Presence/absence of subclinical keratoconus
Description
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).
Time Frame
10 mn
Secondary Outcome Measure Information:
Title
Presence/absence of symptomatic keratoconus with irregular topographic maps
Description
Evaluation by corneal videotopographies
Time Frame
10 mn
Title
Presence/absence of an abnormality of corneal transparency
Description
Evaluated by the measurement of the refraction,
Time Frame
10 mn
Title
Presence/absence of sicca syndrome
Description
Examination with the slit lamp of eyelids and eyelashes
Time Frame
10 mn
Title
Evaluation of quality of vision
Description
-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)
Time Frame
10 mn
Title
Quality of life for adults
Description
-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.
Time Frame
10 mn
10. Eligibility
Sex
All
Minimum Age & Unit of Time
6 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Juliette MAZEREEUW, MD
Phone
05 67 77 81 41
Ext
33
Email
mazereeuw-hautier.j@chu-toulouse.fr
First Name & Middle Initial & Last Name or Official Title & Degree
OLIVIER Isabelle, PhD
Phone
05 61 77 70 51
Ext
33
Email
olivier.i@chu-toulouse.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Juliette MAZEREEUW, MD
Organizational Affiliation
University Hospital, Toulouse
Official's Role
Principal Investigator
Facility Information:
Facility Name
University Hospital of Toulouse
City
Toulouse
ZIP/Postal Code
31000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Juliette MAZEREEUW, MD
Phone
05 67 77 81 41
Ext
33
Email
mazereeuw-hautier.j@chu-toulouse.fr
First Name & Middle Initial & Last Name & Degree
Isabelle OLIVIER, PhD
Phone
05-61-77-70-51
Ext
33
Email
olivier.i@chu-toulouse.fr
12. IPD Sharing Statement
Plan to Share IPD
Undecided
Learn more about this trial
Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)
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