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Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03464994
Recruitment Status : Unknown
Verified March 2018 by University Hospital, Toulouse.
Recruitment status was:  Recruiting
First Posted : March 14, 2018
Last Update Posted : March 14, 2018
Sponsor:
Collaborator:
Association for the development of research in Dermatology
Information provided by (Responsible Party):
University Hospital, Toulouse

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).

Condition or disease Intervention/treatment Phase
Ichthyosis Diagnostic Test: ophthalmological examination Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 152 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis
Actual Study Start Date : July 18, 2017
Estimated Primary Completion Date : July 18, 2018
Estimated Study Completion Date : July 18, 2018


Arm Intervention/treatment
ichthyosis patients
patients presenting an Hereditary ichthyosis, whatever form or ongoing therapy will have an ophthalmological examination.
Diagnostic Test: 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

control population
patient without ichthyosis disease and consulting an ophthalmologist for refractive surgery screening or systematic eye examination will have an ophthalmological examination
Diagnostic Test: 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




Primary Outcome Measures :
  1. 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).


Secondary Outcome Measures :
  1. Presence/absence of symptomatic keratoconus with irregular topographic maps [ Time Frame: 10 mn ]
    Evaluation by corneal videotopographies

  2. Presence/absence of an abnormality of corneal transparency [ Time Frame: 10 mn ]
    Evaluated by the measurement of the refraction,

  3. Presence/absence of sicca syndrome [ Time Frame: 10 mn ]
    Examination with the slit lamp of eyelids and eyelashes

  4. Evaluation of quality of vision [ Time Frame: 10 mn ]
    -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)

  5. Quality of life for adults [ Time Frame: 10 mn ]
    -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.



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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03464994


Contacts
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Contact: Juliette MAZEREEUW, MD 05 67 77 81 41 ext 33 mazereeuw-hautier.j@chu-toulouse.fr
Contact: OLIVIER Isabelle, PhD 05 61 77 70 51 ext 33 olivier.i@chu-toulouse.fr

Locations
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France
University Hospital of Toulouse Recruiting
Toulouse, France, 31000
Contact: Juliette MAZEREEUW, MD    05 67 77 81 41 ext 33    mazereeuw-hautier.j@chu-toulouse.fr   
Contact: Isabelle OLIVIER, PhD    05-61-77-70-51 ext 33    olivier.i@chu-toulouse.fr   
Sponsors and Collaborators
University Hospital, Toulouse
Association for the development of research in Dermatology
Investigators
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Principal Investigator: Juliette MAZEREEUW, MD University Hospital, Toulouse
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Responsible Party: University Hospital, Toulouse
ClinicalTrials.gov Identifier: NCT03464994    
Other Study ID Numbers: RC31/17/0067
2017-A00605-48 ( Other Identifier: ID-RCB )
First Posted: March 14, 2018    Key Record Dates
Last Update Posted: March 14, 2018
Last Verified: March 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Toulouse:
Hereditary ichthyosis
keratoconus
Additional relevant MeSH terms:
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Ichthyosis
Ichthyosis, Lamellar
Congenital Abnormalities
Skin Abnormalities
Infant, Newborn, Diseases
Keratosis
Skin Diseases
Ichthyosiform Erythroderma, Congenital
Skin Diseases, Genetic
Genetic Diseases, Inborn