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.

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Other
    • Masking: None (Open Label)
  • Study Primary Completion Date: November 2024


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

Arms, Groups and Cohorts

  • Other: Skin biopsy

Clinical Trial Outcome Measures

Primary Measures

  • number of human cell models obtained
    • Time Frame: 10 years

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 5 Years

Maximum Age: 70 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital, Montpellier
  • Collaborator
    • Institut National de la Santé Et de la Recherche Médicale, France
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Contact(s)
    • Vasiliki Kalatzis, PhD, (0)499636097, vasiliki.kalatzis@inserm.fr

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