iPS Cells of Patients for Models of Retinal Dystrophies (RETIPS)

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.

Study Overview

• Status: Recruiting
• Conditions: Retinal Dystrophies
• Intervention / Treatment: Other: Skin biopsy

• Study Type: Interventional
• Enrollment (Anticipated): 150
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Vasiliki Kalatzis, PhD; Phone Number: +33 (0)499636097; Email: vasiliki.kalatzis@inserm.fr

Study Locations

• France
  • Occitanie
    • Montpellier, Occitanie, France, 34294
      • Recruiting
      • CNMR Maolya, Genetic Sensory Diseases
      • Contact: Isabelle MEUNIER, PhD; Phone Number: +33 (0)467330278; Email: isabelannemeunier@yahoo.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years to 70 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Skin biopsy	Other: Skin biopsy; Skin biopsy on a location preliminarily anesthetized Disinfection protocol Combined required blood tests (HIV, Hepatitis B)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
number of human cell models obtained	10 years

Collaborators and Investigators

• Sponsor: University Hospital, Montpellier
• Collaborators: Institut National de la Santé Et de la Recherche Médicale, France

Study record dates

Study Major Dates

• Study Start (Actual): November 3, 2014
• Primary Completion (Anticipated): November 1, 2024
• Study Completion (Anticipated): November 1, 2024

Study Registration Dates

• First Submitted: February 22, 2019
• First Submitted That Met QC Criteria: February 22, 2019
• First Posted (Actual): February 25, 2019

Study Record Updates

• Last Update Posted (Actual): December 20, 2022
• Last Update Submitted That Met QC Criteria: December 18, 2022
• Last Verified: December 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Eye Diseases; Retinal Degeneration; Retinal Diseases; Retinal Dystrophies
• Other Study ID Numbers: 9366

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No