Pathology of Helicases and Premature Aging: Study by Derivation of hiPS

NCT03898817 | Terminated

• 1 other identifier: 9360
• Study Type: observational
• Target: 3
• Locations: 1 country
• Sites: 1

Brief Summary

Topic of this work is the involvement of replicative helicases in human premature ageing syndrome. Replicative helicases are ubiquitous and essential during numerous reactions of the DNA metabolism. 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.

Conditions

Age Problem

Keywords

helicase; induced pluripotent stem cells

Outcome Measures

Primary Outcomes (3)

• Genomic instability : analysis

  Molecular analysis of hiPS cell derived from pathological tissue (karyotype, array-CGH)

  1 year

• Genomic instability : size of telomers

  size of the telomers which will be quantified under microscope after fluorescent marking in situ of telomeric sequences (Q-FISH technique)

  1 year

• Genomic instability : Duplication of centrosomes

  duplication of centrosomes which is often associated with chromosomal segregation errors and genomic instability. This analysis will be done by immunolabelling using antibodies specific to the 2 main components of centrosomes, pericentrin and -tubulin.

  1 year

Secondary Outcomes (3)

• cellular ageing : molecular analysis of hiPS cell derived from pathological tissue

  2 years

• cellular ageing : IPS line with the criteria defined for morphological characterization

  2 years

• cellular ageing : molecular characterization

  2 years

Study Arms (1)

Taking of cutaneous cells by biopsy

Taking of cutaneous cells by biopsy and a sample of blood

Other: taking of cutaneous cells

Interventions

taking of cutaneous cells OTHER

Taking of cutaneous cells by biopsy Sample of blood

Taking of cutaneous cells by biopsy

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Population with pathology of helicases and premature aging

You may qualify if:

• Patinet with one of the 3 helicase-associated precoce aging desease

You may not qualify if:

• Minor and /or mentally incapable patient

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

University Hospital Montpellier

Montpellier, 34000, France

Location

Study Officials

• Vincent GATINOIS, harmD

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 7, 2016
• First Posted: April 2, 2019
• Study Start: September 9, 2015
• Primary Completion: September 9, 2017
• Study Completion: September 9, 2017
• Last Updated: December 29, 2021

Record last verified: 2021-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)