Using patient-derived stem cells to grow optic vesicle organoids that model congenital eye malformations
Modeling Ocular Developmental Diseases From 3D Cultures of Optic Vesicle Organoids Derived From hiPSCs of Patients With Ocular Malformations
University Hospital, Toulouse · NCT06408701
This project uses a blood sample from people with congenital eye malformations to make stem cells and grow optic vesicle organoids to see if they reproduce the patients' developmental abnormalities.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 6 Years and up |
| Sex | All |
| Sponsor | University Hospital, Toulouse (other) |
| Locations | 2 sites (Clermont-Ferrand and 1 other locations) |
| Trial ID | NCT06408701 on ClinicalTrials.gov |
What this trial studies
Researchers will collect a blood sample from consenting patients with ocular malformations, reprogram blood cells into human induced pluripotent stem cells (hiPSCs), and grow three-dimensional optic vesicle–containing organoids. These patient-derived organoids will be analyzed for structural and molecular features that reflect the individual's developmental eye defect. The approach aims to overcome limits of animal models by providing a human tissue model to study disease mechanisms and test potential therapeutic interventions in the lab. The study is observational and focused on laboratory modeling rather than providing experimental treatments to participants.
Who should consider this trial
Good fit: Patients with ocular malformations who can provide informed consent (or have a legal representative provide consent) and are affiliated with a social security scheme are eligible.
Not a fit: Because the study collects samples for laboratory modeling, most participants should not expect direct clinical benefit from taking part.
Why it matters
Potential benefit: If successful, this method could reveal disease mechanisms and point to new therapeutic targets or personalized treatment strategies for people with congenital eye malformations.
How similar studies have performed: hiPSC-derived organoid approaches have shown promising results for modeling retinal and developmental disorders, but patient-derived optic vesicle organoids for congenital malformations are a relatively new and still-developing method.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Affiliated with a social security scheme. * Patients with ocular malformations. * Signed informed consent obtained from the patient and/or their legal representatives. Exclusion Criteria: * Inability to understand the nature and objectives of the study and/or difficulties in communicating with the investigator. * Deprivation of liberty by judicial or administrative decision. * Any other pathological or psychological condition deemed incompatible by the investigator for the proper conduct of the study.
Where this trial is running
Clermont-Ferrand and 1 other locations
- CHU de Clermont-Ferrand - Hôpital d'Estaing — Clermont-Ferrand, France (RECRUITING)
- Purpan University Hospital — Toulouse, France (RECRUITING)
Study contacts
- Principal investigator: Julie Plaisancie, MD, PhD — University Hospital, Toulouse
- Study coordinator: Julie Plaisancie, MD, PhD
- Email: plaisancie.j@chu-toulouse.fr
- Phone: 0561779075
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Eye Abnormalities, Microphthalmia, Anophthalmia, Coloboma, Aniridia