Age ProblemHeliPSNCT03898817
Pathology of Helicases and Premature Aging: Study by Derivation of hiPS
An observational study of Age Problem, run by University Hospital, Montpellier at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Age Problem
- What is being tested?
- taking of cutaneous cells
- How many people
- 3 participants
- Where
- 1 siteFrance
- Study dates
- 9 Sep 2015to 9 Sep 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Population with pathology of helicases and premature aging
Who may be able to join
- Patinet with one of the 3 helicase-associated precoce aging desease
Who cannot join
- Minor and /or mentally incapable patient
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the detailed description
For understanding the involved mechanisms we would like to model the 3 diseases with hiPS (human induced Pluripotent Stem cells) from somatic cells of patients. The patient recruitment was organized by the Montpellier and Nîmes public hospitals.
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
- Age Problem
- Being tested
- taking of cutaneous cells
- Keywords
- helicase, induced pluripotent stem cells
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
taking of cutaneous cellsOther
Taking of cutaneous cells by biopsy Sample of blood
| Study group | Role | What they receive |
|---|---|---|
| Taking of cutaneous cells by biopsy | Taking of cutaneous cells by biopsy and a sample of blood Receives: Other: taking of cutaneous cells |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genomic instability : analysis
Molecular analysis of hiPS cell derived from pathological tissue (karyotype, array-CGH)
Measured: 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)
Measured: 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.
Measured: 1 year
Secondary outcomes (3)
cellular ageing : molecular analysis of hiPS cell derived from pathological tissue
Analysis of senescence-associated heterochromatin foci, telomere length (Q-FISH)
Measured: 2 years
cellular ageing : IPS line with the criteria defined for morphological characterization
expression of specific surface markers (specifics markers : TRA-1-60, SSEA-4), ability to re-differentiate in the 3 embryonic layers (specifics markers : SMA, MAP2, FOXA2)
Measured: 2 years
cellular ageing : molecular characterization
lengthening of telomeric sequence size (Q-FISH), re-expression of pluripotency genes (QRTPCR), transcriptional profile of iPS cell lines.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2019
- Study start9 Sep 2015
- Primary completion9 Sep 2017
- Study completion9 Sep 2017
Why it stopped: Inclusion of the last patient
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Age ProblemStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vincent GATINOIS, harmD, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03898817
- Sponsor's protocol ID
- 9360
- Acronym
- HeliPS
- Status last verified
- Dec 2021
- First submitted
- 7 Sep 2016
- Last updated
- 29 Dec 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Dec 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pathology of Helicases and Premature Aging: Study by Derivation of hiPS
- ClinicalTrials.gov ID
- NCT03898817
- Acronym / sponsor ID
- HeliPS / 9360
- Conditions
- Age Problem
- Keywords
- helicase, induced pluripotent stem cells
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Inclusion of the last patient
- Enrolment
- 3 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 9 Sep 2015 (actual)
- Primary completion
- 9 Sep 2017 (actual)
- Study completion
- 9 Sep 2017 (actual)
- First posted
- 2 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
For understanding the involved mechanisms we would like to model the 3 diseases with hiPS (human induced Pluripotent Stem cells) from somatic cells of patients. The patient recruitment was organized by the Montpellier and Nîmes public hospitals.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Taking of cutaneous cells by biopsy | – | Other: taking of cutaneous cellsTaking of cutaneous cells by biopsy and a sample of blood |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Population with pathology of helicases and premature aging
Key inclusion criteria (1 listed)
- Patinet with one of the 3 helicase-associated precoce aging desease
Key exclusion criteria (1 listed)
- Minor and /or mentally incapable patient
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| taking of cutaneous cellsTaking of cutaneous cells by biopsy Sample of blood | Other | Taking of cutaneous cells by biopsy |
Primary outcome
Genomic instability : analysis
Time frame: 1 year
Molecular analysis of hiPS cell derived from pathological tissue (karyotype, array-CGH)
Genomic instability : size of telomers
Time frame: 1 year
size of the telomers which will be quantified under microscope after fluorescent marking in situ of telomeric sequences (Q-FISH technique)
Genomic instability : Duplication of centrosomes
Time frame: 1 year
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.
3 secondary outcomes
cellular ageing : molecular analysis of hiPS cell derived from pathological tissue
Time frame: 2 years
cellular ageing : IPS line with the criteria defined for morphological characterization
Time frame: 2 years
cellular ageing : molecular characterization
Time frame: 2 years
Results and safety
The study was stopped early (reason given: Inclusion of the last patient). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Dec 2021.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vincent GATINOIS, harmD principal investigator
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Age Problem, run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 29 Dec 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Inclusion of the last patient). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genomic instability : analysis (time frame: 1 year). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Dec 2021.