Clinical trial NCT06949579: Risk of Posterior Staphyloma in Highly Myopic Europeans : From Epidemiology to Anatomy.
Official title: Risk of Posterior Staphyloma in Highly Myopic Europeans : From Epidemiology to Anatomy.
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: High Myopia
Keywords: High myopia
Myopic staphyloma
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2025-04-29
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

Brief summary: In this cros-sectionnal study the aim is to increase the understanding of posteria staphyloma through a unique European consortium. Therefore, all eligible patients that either visit the outmatient clinic at Rdboudumc in Nimegen, the Netherlands, or visit University Hopital Puerta de Hierro-Majadahonda in Madrid, Spain, or visit University Hospital Cochin in Paris, France, and after consenting, xill be included.

600 high myopic European cases are expecting. A standardized protocol in all centers in order to create a uniform dataset.

Besides the standard of care, blood samples will be collected.

All data collected will be stored in an onlie Castor database

Detailed description: Main objective: To characterize the phenotype and biology of myopic staphyloma in a European population (three countries involved).

Main evaluation criterion:

To collect a cohort in France of Caucasian patients with high myopia, with or without complicated myopic staphyloma (100 with and 100 without staphyloma) with retinal phenotyping associated with a collection of biological media over two years in order to establish correlations between phenotype and genotype Establish correlations between the phenotype and systemic molecular markers Compare phenotypes between the three countries conducting similar research: France, the Netherlands and Spain

Secondary evaluation criteria:

Analyze the clinical characteristics of staphyloma in Caucasians (form, location, associated complications) Analyze the myopic population with staphyloma (degree of myopia, age, sex, lifestyle, associated pathologies, family history, exposure to light, etc.).

* Compare the cohort with two other similar cohorts collected in the Netherlands and Spain (each country will collect 200 patients and the biological samples will be pooled) For a total of 600 patient samples.
* Carry out biological biomarker analyses in patients with high myopia compared to patients with high myopia and staphyloma. The molecules tested will be drawn from ongoing preclinical studies on a mouse animal model with myopic staphyloma, more specifically LRP2/megalin. The investigator will also measure serum steroids and oxidative stress markers. Multi-omics studies may be conducted on proteins and RNA extracted from whole blood.
* Carry out a comparative genetic analysis between severely short-sighted patients with staphyloma and severely short-sighted patients without staphyloma (exome or GWAS).
* Prepare pluripotent stem cells for 4 volunteers (1 male and 1 female myopic patient with staphyloma and 1 male and 1 female myopic patient without staphyloma, aged 30 to 35) which will be used to prepare pigmentary epithelium cells on which cell biology and molecular studies will be carried out.

Characterize the clinical phenotype of strong myopic patients with posterior staphyloma (PS, n=100) and without PS (n=100) Research genetic factors associated with staphyloma Research serum molecular factors associated with staphyloma Correlate molecular and phenotypic parameters between the two groups Compare the French cohort with two European cohorts in Spain and the Netherlands analyzed using the same study model Cross-sectional study with collection of demographic data, ophthalmological examination as part of the care (visual acuity, ocular tension, refraction, biometry, slit lamp examination, fundus examination), ophthalmological imaging examinations (retinophotographs and OCT), blood sampling for the study of biological and genetic markers

Eligibility criteria: Inclusion Criteria:

* Adults with high myopia (axial length ≥ 26.00 mm or degree of myopia of at least -6 diopters), with and without posterior staphyloma

  * Adults aged 18 years or over
  * Patient with high myopia (axial length ≥ 26.00 mm or degree of myopia of at least -6 diopters), with good quality retinal imaging
  * Patient who has signed a consent form to participate in the study
  * Patient who is a beneficiary of a social security scheme or who is entitled to it

Exclusion Criteria:

* Any systemic or ocular pathologies with an impact on the posterior segment of the eye

  * Patient with a systemic pathology likely to affect the posterior segment of the eye:
  * Diabetes
  * Systemic inflammatory disease: sarcoidosis, rheumatoid arthritis, systemic lupus erythematosus, Horton's disease
  * Patients with retinitis pigmentosa
  * Patients with syndromic myopia
  * Patients with myopia associated with a genetic disease such as hereditary vitreoretinopathy
  * Patients under guardianship, curatorship or legal protection, as well as pregnant or breastfeeding women (article L1121-5 of the CSP).

Primary outcomes:
measure: Differential gene expression between myopic patients with and without staphyloma
timeFrame: Through study completion, an average of 1 year.
Secondary outcomes:
measure: Establish correlations between the phenotype and systemic molecular markers
timeFrame: Through study completion, an average of 1 year.
measure: Compare phenotype of staphyloma between France and 2 other European countries: Netherlands and Spain
timeFrame: 25 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Cochin Hospital
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Francine BEHAR-COHEN, MD,PhD
role: PRINCIPAL_INVESTIGATOR
References: