Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France.
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S
Sponsors |
Lead Sponsor: Centre Hospitalier Universitaire de Saint Etienne Collaborator: Kyoto University, Graduate School of Medicine |
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Source | Centre Hospitalier Universitaire de Saint Etienne | ||||||||||||||||||
Brief Summary | The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy (FECD)) is beginning to be dismembered. One of the most common genetic anomalies is a triplet repetition in one of the introns of the Transcription Factor 4 (TCF4) gene located on chromosome 18. However, the number of repetitions varies greatly from one patient to another. |
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Detailed Description | The intent of that study was to analyse if there is a relationship between the number of triplet repetitions and the rate of disease progression. This knowledge would make it possible to personalize the care. |
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Overall Status | Recruiting | ||||||||||||||||||
Start Date | August 1, 2019 | ||||||||||||||||||
Completion Date | April 2022 | ||||||||||||||||||
Primary Completion Date | April 2021 | ||||||||||||||||||
Study Type | Observational | ||||||||||||||||||
Primary Outcome |
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Secondary Outcome |
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Enrollment | 208 | ||||||||||||||||||
Condition | |||||||||||||||||||
Intervention |
Intervention Type: Other Intervention Name: Collection of datas Description: Collection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed. Arm Group Label: Patients with Fuchs Endothelial Corneal Dystrophy (FECD) Intervention Type: Biological Intervention Name: blood sample Description: Blood sample will be performed (genetic analyses). Intervention Type: Other Intervention Name: slit lamp examination Description: Slit lamp examination will be performed. Arm Group Label: Control group |
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Eligibility |
Sampling Method: Non-Probability Sample
Criteria:
Inclusion Criteria: For patient group: - >18 years old - affiliated with or entitled to a social security scheme - having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study - with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination For control group: - >18 years old - affiliated with or entitled to a social security scheme - having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study Exclusion Criteria: For patient group: - Patients under guardianship or curatorship - Patient planning to move within the year - With no evidence of ophthalmological pathology requiring intraocular surgery within one year of the first visit - Better initial corrected visual acuity <1/10 - Not having had intraocular surgery in the 6 months prior to inclusion (after 6 months, the endothelium is considered stabilized) - Not having any other progressive pathology responsible for a decrease in visual acuity (significant cataract Lens Opacities Classification System (LOCS) >2 ; progressive retinal pathology, in particular age-related macular degeneration, unstabilized macular edema) For control group: - Patients under guardianship or curatorship - with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination Gender: All Minimum Age: 18 Years Maximum Age: N/A Healthy Volunteers: Accepts Healthy Volunteers |
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Overall Official |
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Overall Contact |
Last Name: Gilles THURET, MD PhD Phone: (0)477127540 Phone Ext.: +33 Email: [email protected] |
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Location |
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Location Countries |
France |
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Verification Date |
August 2020 |
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Responsible Party |
Type: Sponsor |
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Keywords | |||||||||||||||||||
Has Expanded Access | No | ||||||||||||||||||
Condition Browse | |||||||||||||||||||
Arm Group |
Label: Patients with Fuchs Endothelial Corneal Dystrophy (FECD) Description: Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample. Label: Control group Description: Witness will be included in control group. They will have a blood sample and slit lamp examination. |
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Acronym | F3S | ||||||||||||||||||
Patient Data | No | ||||||||||||||||||
Study Design Info |
Observational Model: Cohort Time Perspective: Prospective |
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