RETIPS: iPS Cells of Patients for Models of Retinal Dystrophies
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 |
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|
N/A |
Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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Other: Skin biopsy
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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
Inclusion criteria :
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Signed informed consent and
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Choroideremia :
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Males
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CHM mutation
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With multimodal Imaging anomalies in line with CHM
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All other presumed inherited retinal dystrophies with bilateral and symmetrical involvement with identified mutations in one of the Retnet gene
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All presumed inherited optic neuropathy with bilateral and symmetrical involvement with identified mutations
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And in all cases or pattern
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Age from 5 to 70
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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.- 9366