High MyopiaMYOFORTENCT06949579
Risk of Posterior Staphyloma in Highly Myopic Europeans : From Epidemiology to Anatomy.
A study testing blood sampling for DNA in people with High Myopia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
In this cross-sectionnal study the aim is to increase the understanding of posterior staphyloma through a unique European consortium. Therefore, all eligible patients that either visit the outpatient clinic at Radboud in Nimegen, the Netherlands, or visit University Hopital Puerta de HierroMajadahonda in Madrid… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- High Myopia
- What is being tested?
- blood sampling for DNA
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- 12 Feb 2026to Dec 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
In this cross-sectionnal study the aim is to increase the understanding of posterior staphyloma through a unique European consortium. Therefore, all eligible patients that either visit the outpatient clinic at Radboud in Nimegen, the Netherlands, or visit University Hopital Puerta de HierroMajadahonda in Madrid, Spain, or visit University Hospital Cochin in Paris, France, and after consenting, will 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
Read the detailed description
Main objective: To characterize the phenotype, genetics and biology of myopic staphyloma in a European population (three countries involved).
Primary Outcome Measure:
The primary objective of this study is to identify genetic variants (SNPs) significantly associated with the presence of posterior staphyloma in individuals of European ancestry with high myopia.
A genome-wide association study (GWAS) will be conducted in 600 highly myopic Caucasian participants, divided into two well-phenotyped groups:
- 300 patients with posterior staphyloma (case group)
- 300 patients without posterior staphyloma (control group) SNP allele frequencies will be compared between the two groups using logistic regression models adjusted for relevant covariates (age, sex, axial length, and genetic ancestry via principal components).
The primary endpoint is the identification of SNPs s reaching genome wide significance (p < 5×10-⁸)after correction for multiple testing.
Secondary Outcome Measures:
- Functional annotation and biological pathway enrichment of associated loci Genome-wide significant SNPs will undergo functional annotation to identify nearby genes, regulatory regions, or non-coding variants with putative biological function. Pathway and gene ontology enrichment analyses (e.g., KEGG, Reactome, GO) will be performed to highlight potential biological mechanisms contributing to posterior staphyloma pathogenesis.
- Association with retinal imaging phenotypes Exploratory analyses will assess the relationship between genome wide significant variants and quantitative retinal imaging traits, including: subfoveal choroidal thickness,axial length,staphyloma depth, stpahyloma location, scleral curvature… These associations will be evaluated using multivariable linear regression models, adjusted for potential confounders.
- Association with structural complications of posterior staphyloma Further exploratory analyses will investigate whether genome wide significant SNPs are associated with major strutural complications of posterier staphyloma, such as : macular atrophy,Bruch's membrane ruptures,choroidal neovascularization,foveoschisis, retinal detachment, visual fonction These analyses aim to uncover genetic markers linked to disease severity or progression
- Differential expression of disease-relevant plasma/ serum protein biomarkers between groups, quantified by mass spectrometry, and correlated with clinical phenotype severity or progression (e.g., visual acuity loss, anatomical changes on OCT)
- Efficiency and quality of iPSC reprogramming from peripheral blood mononuclear cells (PBMCs) in each study group, 4 individuals (1 male and 1 female myopic patient with staphyloma and 1 male and 1 female myopic patient without staphyloma, aged 30 to 35) assessed by reprogramming success rate, pluripotency marker expression, and genomic integrity. Derived iPSCs will be used differentiate retinal pigment epithelial cells in order to compare disease-relevant cellular phenotypes and functional responses in vitro.
- Conditions
- High Myopia
- Being tested
- blood sampling for DNA
- Keywords
- High myopia, Myopic staphyloma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampling for DNABiological
Blood sampling for DNA and serum and plasma colection and PBMC
| Study group | Role | What they receive |
|---|---|---|
| AM A : High Myopia without myopic staphyloma | Experimental | Not described Receives: Biological: blood sampling for DNA |
| ARM B : High myopia with myopic staphyloma | Active comparator | Not described Receives: Biological: blood sampling for DNA |
What is being measured
The primary outcome is the main question the study is designed to answer.
Differential gene expression between myopic patients with and without staphyloma
Genetic analysis
Measured: Through study completion, an average of 1 year.
Secondary outcomes (2)
Establish correlations between the phenotype and systemic molecular markers
Proteomic analysis in blood
Measured: Through study completion, an average of 1 year.
Compare phenotype of staphyloma between France and 2 other European countries: Netherlands and Spain
Retinal imaging
Measured: 25 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Apr 2025
- Study start12 Feb 2026
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for High MyopiaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Francine BEHAR-COHEN, MD,PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06949579
- Sponsor's protocol ID
- APHP240842
- Acronym
- MYOFORTE
- Status last verified
- Aug 2026
- First submitted
- 24 Mar 2025
- Last updated
- 7 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Risk of Posterior Staphyloma in Highly Myopic Europeans : From Epidemiology to Anatomy.
- ClinicalTrials.gov ID
- NCT06949579
- Acronym / sponsor ID
- MYOFORTE / APHP240842
- Conditions
- High Myopia
- Keywords
- High myopia, Myopic staphyloma
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 12 Feb 2026 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 29 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
In this cross-sectionnal study the aim is to increase the understanding of posterior staphyloma through a unique European consortium. Therefore, all eligible patients that either visit the outpatient clinic at Radboud in Nimegen, the Netherlands, or visit University Hopital Puerta de HierroMajadahonda in Madrid, Spain, or visit University Hospital Cochin in Paris, France, and after consenting, will 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, genetics and biology of myopic staphyloma in a European population (three countries involved).
Primary Outcome Measure:
The primary objective of this study is to identify genetic variants (SNPs) significantly associated with the presence of posterior staphyloma in individuals of European ancestry with high myopia.
A genome-wide association study (GWAS) will be conducted in 600 highly myopic Caucasian participants, divided into two well-phenotyped groups:
- 300 patients with posterior staphyloma (case group)
- 300 patients without posterior staphyloma (control group) SNP allele frequencies will be compared between the two groups using logistic regression models adjusted for relevant covariates (age, sex, axial length, and genetic ancestry via principal components).
The primary endpoint is the identification of SNPs s reaching genome wide significance (p < 5×10-⁸)after correction for multiple testing.
Secondary Outcome Measures:
- Functional annotation and biological pathway enrichment of associated loci Genome-wide significant SNPs will undergo functional annotation to identify nearby genes, regulatory regions, or non-coding variants with putative biological function. Pathway and gene ontology enrichment analyses (e.g., KEGG, Reactome, GO) will be performed to highlight potential biological mechanisms contributing to posterior staphyloma pathogenesis.
- Association with retinal imaging phenotypes Exploratory analyses will assess the relationship between genome wide significant variants and quantitative retinal imaging traits, including: subfoveal choroidal thickness,axial length,staphyloma depth, stpahyloma location, scleral curvature… These associations will be evaluated using multivariable linear regression models, adjusted for potential confounders.
- Association with structural complications of posterior staphyloma Further exploratory analyses will investigate whether genome wide significant SNPs are associated with major strutural complications of posterier staphyloma, such as : macular atrophy,Bruch's membrane ruptures,choroidal neovascularization,foveoschisis, retinal detachment, visual fonction These analyses aim to uncover genetic markers linked to disease severity or progression
- Differential expression of disease-relevant plasma/ serum protein biomarkers between groups, quantified by mass spectrometry, and correlated with clinical phenotype severity or progression (e.g., visual acuity loss, anatomical changes on OCT)
- Efficiency and quality of iPSC reprogramming from peripheral blood mononuclear cells (PBMCs) in each study group, 4 individuals (1 male and 1 female myopic patient with staphyloma and 1 male and 1 female myopic patient without staphyloma, aged 30 to 35) assessed by reprogramming success rate, pluripotency marker expression, and genomic integrity. Derived iPSCs will be used differentiate retinal pigment epithelial cells in order to compare disease-relevant cellular phenotypes and functional responses in vitro.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| AM A : High Myopia without myopic staphyloma | Experimental | Biological: blood sampling for DNA |
| ARM B : High myopia with myopic staphyloma | Active comparator | Biological: blood sampling for DNA |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Adults with high myopia (axial length ≥ 26.00 mm or degree of myopia of at least -6 diopters), with and without posterior staphyloma
Key exclusion criteria (8 listed)
- Any systemic or ocular pathologies with an impact on the posterior segment of the eye
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood sampling for DNABlood sampling for DNA and serum and plasma colection and PBMC | Biological | AM A : High Myopia without myopic staphyloma, ARM B : High myopia with myopic staphyloma |
Primary outcome
Differential gene expression between myopic patients with and without staphyloma
Time frame: Through study completion, an average of 1 year.
Genetic analysis
2 secondary outcomes
Establish correlations between the phenotype and systemic molecular markers
Time frame: Through study completion, an average of 1 year.
Compare phenotype of staphyloma between France and 2 other European countries: Netherlands and Spain
Time frame: 25 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Aug 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Francine BEHAR-COHEN, MD,PhD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood sampling for DNA in people with High Myopia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 7 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Francine Behar-Cohen, MD, PhD (06 60 97 44 19 ext. +33, francine.cohen@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Differential gene expression between myopic patients with and without staphyloma (time frame: Through study completion, an average of 1 year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Aug 2026.