NCT03853252

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Nov 2014

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 3, 2014

Completed
4.3 years until next milestone

First Submitted

Initial submission to the registry

February 22, 2019

Completed
3 days until next milestone

First Posted

Study publicly available on registry

February 25, 2019

Completed
4.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 30, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 30, 2023

Completed
Last Updated

July 10, 2025

Status Verified

July 1, 2025

Enrollment Period

9 years

First QC Date

February 22, 2019

Last Update Submit

July 7, 2025

Conditions

Retinal Dystrophies

Outcome Measures

Primary Outcomes (1)

  • number of human cell models obtained

    10 years

Study Arms (1)

Skin biopsy

OTHER
Other: Skin biopsy

Interventions

Skin biopsyOTHER

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

Skin biopsy

Eligibility Criteria

Age5 Years - 70 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • Patient under tutorship or curatorship

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CNMR Maolya, Genetic Sensory Diseases

Montpellier, Occitanie, 34294, France

Location

MeSH Terms

Conditions

Retinal Dystrophies

Condition Hierarchy (Ancestors)

Retinal DegenerationRetinal DiseasesEye Diseases

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 22, 2019

First Posted

February 25, 2019

Study Start

November 3, 2014

Primary Completion

October 30, 2023

Study Completion

October 30, 2023

Last Updated

July 10, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)