iPS Cells of Patients for Models of Retinal Dystrophies

NCT ID: NCT03853252

Last Updated: 2025-07-10

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 150 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2014-11-03
• Study Completion Date: 2023-10-30

Brief Summary

The investigators are focused on inherited retinal dystrophies with an aim to further understand disease pathophysiology and to elaborate novel treatments, as, to date, there is no effective treatment to prevent blindness.

The main goal of this study is to generate human cellular models of healthy and disease retinas and perform studies to evaluate the efficiency of gene therapy approaches for different diseases.

Skin biopsies of volunteers are cultured to isolate fibroblasts that are then reprogrammed into iPS cells. Healthy and disease-specific iPS cells are then differentiated into retinal models.

This study should help to elucidate disease pathways and to provide proof-of-concept for various therapeutic approaches.

Conditions

Retinal Dystrophies

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Skin biopsy

Group Type: OTHER

Skin biopsy

Intervention Type: OTHER

Skin biopsy on a location preliminarily anesthetized Disinfection protocol Combined required blood tests (HIV, Hepatitis B)

Interventions

Skin biopsy

Skin biopsy on a location preliminarily anesthetized Disinfection protocol Combined required blood tests (HIV, Hepatitis B)

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Signed informed consent and
• Choroideremia :

• Males
• CHM mutation
• With multimodal Imaging anomalies in line with CHM
• All other presumed inherited retinal dystrophies with bilateral and symmetrical involvement with identified mutations in one of the Retnet gene
• All presumed inherited optic neuropathy with bilateral and symmetrical involvement with identified mutations
• And in all cases or pattern

• Age from 5 to 70
• with appropriate health insurance

Exclusion Criteria

• Patient under tutorship or curatorship

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role: collaborator

University Hospital, Montpellier

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

CNMR Maolya, Genetic Sensory Diseases

Montpellier, Occitanie, France

Countries

France

Other Identifiers

9366

Identifier Type: -

Identifier Source: org_study_id