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Report for SNP rs613872

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S

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.

NCT03974230 Fuchs Endothelial Corneal Dystrophy Other: Collection of datas Biological: blood sample Other: slit lamp examination
MeSH: Fuchs' Endothelial Dystrophy

Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.. Mutation rs613872.

Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene..

Primary Outcomes

Description: Correlation between visual acuity measured before noon eye by eye of ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) results and number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.

Measure: Visual acuity

Time: Year: 0 and 1

Secondary Outcomes

Description: Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.

Measure: CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene

Time: Year: 0 and 1

Description: Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.

Measure: Mutation rs613872

Time: Year: 0 and 1

Description: Analysis frequency of the other mutation type nucleotide polymorphisms in the intron of the Transcription Factor 4 (TCF4) gene.

Measure: Other mutation

Time: Year: 0 and 1

Description: Analysis refraction with the auto-refractor tonometry non-contact air.

Measure: Refraction with the auto-refractor tonometry

Time: Year: 0 and 1

Description: Correlation between visual acuity measured before noon eye by eye on the ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation. ETDRS (Early Treatment Diabetic Retinopathy Study) scale will be allowed to measure visual acuity uses an eye chart with 5 letters per line. The scores range from 0 (no letters read correctly) to 100 (all letters read correctly).

Measure: ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation

Time: Year: 0 and 1

Description: Correlation between interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography results.

Measure: interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography

Time: Year: 0 and 1

Description: Comparison corneal thickness in Optical Coherence Tomography (OCT).

Measure: Corneal thickness in Optical Coherence Tomography (OCT)

Time: Year: 0 and 1

Description: Comparison reflectivity results measure by Optical Coherence Tomography (OCT). Optical Coherence Tomography (OCT) is an imaging technique, which is able to produce, in vivo, cross-sectional images of lesions.

Measure: Reflectivity results measure by Optical Coherence Tomography (OCT)

Time: Year: 0 and 1


HPO Nodes