Modeling Ocular Developmental Diseases From 3D Cultures of Optic Vesicle Organoids Derived From hiPSCs of Patients With Ocular Malformations

NCT06408701 | Recruiting

• 1 other identifier: RC31/23/0626
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 2

Brief Summary

Ocular morphogenesis is a complex process starting as early as the 4th week of embryonic life, involving interactions between varioustissues of different origin and conserved genes. Anomalies in ocular development , often of genetic origin, pose diagnostic and therapeutic challenges. Animal models are limited, so human-induced pluripotent stem cell (hiPSC)-derived optic vesicle containing brain organoids (OVBOs) offer a promising alternative. These pathological OVBOs, created from patients' cells with ocular malformations, allow for the study of underlying molecular mechanisms and testing of therapies.

Conditions

Eye Abnormalities

Keywords

Microphthalmia; Anophthalmia; Coloboma; Aniridia

Outcome Measures

Primary Outcomes (1)

• Culture of Optic Vesicles containing Brain Organoids (OVBOs) for the Study of Eye malformations

  Macroscopic Examination and Expression of Specific Tissue Markers to Identify Optic Vesicle Anomalies

  Day 60 of Development

Secondary Outcomes (1)

• Molecular and Cellular Study of Genetically Characterized Ocular Malformations in Patients

  through study completion, an average of 1 year

Study Arms (1)

Subjects presenting with an ocular developmental anomaly

Biological samples will be collected in the normal diagnosis and follow-up process

Biological: Blood sampling

Interventions

Blood sampling BIOLOGICAL

Blood will be taken in larger quantity

Subjects presenting with an ocular developmental anomaly

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

These patients will be solicited/sampled based on the genetic origin of the malformation they carry.

You may qualify if:

• Affiliated with a social security scheme.
• Patients with ocular malformations.
• Signed informed consent obtained from the patient and/or their legal representatives.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (2)

CHU de Clermont-Ferrand - Hôpital d'Estaing

Clermont-Ferrand, France

RECRUITING

Purpan University Hospital

Toulouse, 31059, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood mononuclear cells (PBMC)

MeSH Terms

Conditions

Eye Abnormalities; Microphthalmos; Anophthalmos; Coloboma; Aniridia

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Eye Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases, Hereditary; Iris Diseases; Uveal Diseases; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Julie Plaisancie, MD, PhD

  University Hospital, Toulouse

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Julie Plaisancie, MD, PhD

CONTACT

0561779075; plaisancie.j@chu-toulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 7, 2024
• First Posted: May 10, 2024
• Study Start: November 5, 2024
• Primary Completion (Estimated): May 2, 2034
• Study Completion (Estimated): May 2, 2034
• Last Updated: March 18, 2026

Record last verified: 2026-03

Locations

FR (2)