Pathology of Helicases and Premature Aging: Study by Derivation of hiPS
NCT ID: NCT03898817
Last Updated: 2021-12-29
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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TERMINATED
3 participants
OBSERVATIONAL
2015-09-09
2017-09-09
Brief Summary
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The family of replicative helicases (RecQL) is involved in the replication/repair of the DNA and in the telomere maintenance. There are 5 enzymes in human and 3 of them are involved in clinically recognizable syndromes: WRN for the Werner syndrome, BLM for the Bloom syndrome and RECQL4 for the Rothmund Thomson syndrome. All are responsive of a high cancer risk due to genomic instability. Molecular and cellular mechanisms involved in these diseases of ageing are unknown. Moreover, for all of them, there is not therapeutic or preventive solution.
Detailed Description
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The project is to generate a hiPS cell line for the 3 syndromes from fibroblasts and/or blood samples. Then, we could induce differentiation of hiPS to a target cell line of the diseases. Finally we could study the disease development following the genomic instability (karyotype, array-CGH) and the cellular ageing (senescence-associated heterochromatin foci, telomere length).
For each mutated enzyme, we will perform a transcriptional profiling (splice, mRNA quantification) and protein studies (western blot). All results will be compared to wild type cells.
Conditions
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Keywords
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Study Design
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OTHER
PROSPECTIVE
Study Groups
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Taking of cutaneous cells by biopsy
Taking of cutaneous cells by biopsy and a sample of blood
taking of cutaneous cells
Taking of cutaneous cells by biopsy Sample of blood
Interventions
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taking of cutaneous cells
Taking of cutaneous cells by biopsy Sample of blood
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
18 Years
65 Years
ALL
No
Sponsors
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University Hospital, Montpellier
OTHER
Responsible Party
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Principal Investigators
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Vincent GATINOIS, harmD
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Montpellier
Locations
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University Hospital Montpellier
Montpellier, , France
Countries
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Other Identifiers
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9360
Identifier Type: -
Identifier Source: org_study_id