RETIPS: iPS Cells of Patients for Models of Retinal Dystrophies

Sponsor

University Hospital, Montpellier (Other)

Overall Status

Recruiting

CT.gov ID

NCT03853252

Collaborator

Institut National de la Santé Et de la Recherche Médicale, France (Other)

150

Enrollment

Location

Arm

120

Anticipated Duration (Months)

1.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Retinal Dystrophies	Other: Skin biopsy	N/A

Study Design

Study Type:

Interventional

Anticipated Enrollment :

150 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Other

Official Title:

iPS Cells of Patients for Models of Retinal Dystrophies

Actual Study Start Date :

Nov 3, 2014

Anticipated Primary Completion Date :

Nov 1, 2024

Anticipated Study Completion Date :

Nov 1, 2024

Arms and Interventions

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)

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)

Outcome Measures

Primary Outcome Measures

number of human cell models obtained [10 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

5 Years to 70 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	CNMR Maolya, Genetic Sensory Diseases	Montpellier	Occitanie	France	34294

Sponsors and Collaborators

University Hospital, Montpellier
Institut National de la Santé Et de la Recherche Médicale, France

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

University Hospital, Montpellier

ClinicalTrials.gov Identifier:

NCT03853252

Other Study ID Numbers:

9366

First Posted:

Feb 25, 2019

Last Update Posted:

Mar 31, 2020

Last Verified:

Mar 1, 2020

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Retinal Dystrophies

Study Results

No Results Posted as of Mar 31, 2020