💬In plain words
What the trial is, and whether it could suit you
The cornea is the outermost transparent 'window' of the eye allowing light to enter and serving as the first-line immune and mechanical barrier. It is a complex avascular tissue composed of cells, stem cells, nerves, and collagen layers organized in an exquisite manner to maintain its transparency and self-healing capacity. This delicately balanced interplay of corneal elements is disrupted in rare diseases of the cornea, resulting in non-healing wounds, corneal ulceration, inflammation, new vessel ingrowth (neovascularization), defective innervation, scarring, oedema and loss of transparency. For many Rare Eye Diseases (REDs), drug development has been relatively unsuccessful, delivering few to no new therapies. Current management is often prohibitively expensive, has low efficacy and leads to debilitating side effects. The RESTORE VISION project (https://restorevision-project.eu/) aims
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
Inclusion Criteria:
Patient group:
* Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study)
* Willingness and ability to read and understand the informed consent.
* Diagnosis (including genotype, if needed) of REDs.
* Affiliation with a social security scheme or beneficiary of such a scheme.
RED 1 - AAK Diagnosis criteria
* Compatible slit lamp examination (iris/pupillary abnormalities, with or without corneal opacification, vascularization, cataract, glaucoma). with or without:
* Foveal hypoplasia and optic disc malformations as detected through fundus examination or OCT tomography
* Compatible anterior segment OCT or high-frequency ultrasound biomicroscopy (UBM)
* Positive genetic testing
RED 2 - NK Diagnosis criteria
* Compatible history and slit lamp findings of one of the three stages of the Mackie classification (I - punctate keratopathy; II - persistent epithelial defect; III - stromal involvement)
* Reduced/absent corneal sensitivity
* Exclusion of infectious or toxic etiologies with or without:
* confocal microscopy findings
RED 3 - LSCD Diagnosis criteria
* Compatible history and slit lamp examination (e.g. corneal conjunctivalization with persistent epithelial defects, loss of limbal anatomy or irregular staining with fluorescein) with or without:
* confocal microscopy findings
RED 4 - OCP Diagnosis criteria
* Compatible slit lamp examination
* Exclusion of infectious or toxic etiologies with or without:
* conjunctival /oral biopsy with characteristic mucous pemphigoid findings
RED 5 - OC GVHD Diagnosis criteria • Compatible history and slit lamp examination consistent with one of 4 grades of ocular GVHD (1 - conjunctival hyperemia, 2 - fibrovascular changes \<25% of palpebral conjunctiva, 3 - fibrovascular changes \>25%, 4 - \>75% or cicatricial entropion)
RED 6 - EEC Diagnosis criteria
* Compatible slit lamp examination
* Compatible systemic findings with or without:
* Positive genetic testing
RED 7- CNV Diagnosis criteria
* Compatible slit lamp examination of corneal stromal neovascularization (1-4 quadrants)
* Exclusion of infectious or toxic etiologies with or without:
* confocal microscopy findings
Control group:
* Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study).
* Willingness and ability to read and understand the informed consent.
* Non-diagnosis of REDs.
* Affiliation with a social security scheme of beneficiary of such a scheme.
Exclusion Criteria:
Patient group:
* Pregnancy, breastfeeding (in case any stress was caused to the woman by the biological sampling).
* Descemetocele/impending corneal perforation.
* Recent (less than 3 months) ocular surgery.
* Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.
* Persons subject to a legal protection measure (under guardianship, curatorship or safeguard of justice)
Control group:
* Pregnancy, breastfeeding.
* Active ocular infection.
* Descemetocele/impending corneal perforation.
* Recent (less than 3 months) ocular surgery.
* Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.
* Persons subject to a legal protection measure. (under guardianship, curatorship or safeguard of justice)
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