iPS Cells of Patients for Models of Retinal Dystrophies

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.

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Key information

Conditions

Retinal Dystrophies Eye Diseases Retinal Degeneration Retinal Diseases

Age range

5 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CNMR Maolya, Genetic Sensory Diseases

Montpellier, Occitanie, 34294, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Skin biopsy

Other

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

Primary outcomes

number of human cell models obtained

Time frame: 10 years

Sponsors and collaborators

Lead sponsor

University Hospital, Montpellier

Other

Collaborators

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

Registry information

Acronym: RETIPS

Important dates

Study start: 2014
Primary completion: 2023
Study completion: 2023
First posted: Feb 25, 2019
Registry last updated: Jul 10, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed