Telomere DiseaseTELOSTICNCT05508321
Nasal Brushing for the Diagnosis and Understanding of Telomeropathies
A study testing Nasal brushing and Sniffin' Sticks in people with Telomere Disease and Telomere Shortening, run by Cliniques universitaires Saint-Luc- Université Catholique de Louvain at 1 site in Belgium.
Trial summary
To date, the diagnosis of telomeropathies is based on telomere length measured in blood cells. However, this type of analysis is not always sufficient because some mutations underlying the development of telomeropathies are not associated with abnormal shortened telomeres. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Telomere Disease, Telomere Shortening
- What is being tested?
- Nasal brushing and Sniffin' Sticks
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 250 participants
- Where
- 1 siteBelgium
- Study dates
- 1 Oct 2022to 31 Dec 2025
- Phase
- Interventional
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Patients : Having a suspicion of or a confirmed telomeropathy
Who cannot join
- Patients and controls:No access to the olfactory cleft Patients and controls: Abnormal endoscopic finding (i.e. meningocele, vascular ectasia)
- Specific exclusion criteria for smell assessment (outcome 3):
- Patients and controls: History of neurological or psychiatric disorder known to interfere with olfactory function or olfactory trouble (postinfectious, posttraumatic, toxic) Patients and controls: History of chronic rhinosinusitis
Trial locations and contacts
1 site in 1 country.
Belgium1 site, 1 recruiting
- Recruiting
Clinique Universitaires Saint-Luc
Brussels, Woluwé-Saint-Lambert, 1200
Caroline Huart, MD, PhD, +3227646005, caroline.huart@saintluc.uclouvain.be
Anabelle Decottignies, PhD, +3227647574, anabelle.decottignies@uclouvain.be
About this study
To date, the diagnosis of telomeropathies is based on telomere length measured in blood cells. However, this type of analysis is not always sufficient because some mutations underlying the development of telomeropathies are not associated with abnormal shortened telomeres. Since telomere dysfunction analysis cannot be performed on blood cells, it is mandatory to have access to another cellular material. To date, skin biopsies are performed to obtain fibroblasts. However, this technique is relatively invasive. The aim of this project is to assess whether nasal epithelial cells obtained through nasal brushing could offer the opportunity to detect cellular alterations and mutations involved in telomeropathies, in a mildly invasive way. If successful, this technique could become a non-invasive clinical tool for the diagnosis work-up of telomeropathies. Moreover, investigators aim to assess whether olfactory function is impaired in patients with telomeropathies.
Read the detailed description
Endpoint #1: To assess the suitability of nasal brushing analyses for the diagnosis of telomeropathies.
To date, the complete diagnosis of telomeropathies, including the identification of responsible mutations, is based on blood samples and fibroblast cultures obtained through skin biopsies. Cells obtained through nasal brushing offer the opportunity to detect cellular alterations and mutations involved in telomeropathies, in a mildly invasive way. Investigators will thus assess a population of patients with a suspicion of telomeropathy, using a nasal brushing, and will compare their nasal brushing results to those of age-matched healthy controls. In patients, results of nasal brushing will be compared to standard of care blood test (leukocyte telomere length using Flow-FISH technique). If investigators confirm that the nasal brushing offers the opportunity to i) detect damaged telomeres and premature cellular senescence and ii) identify mutations related to telomeropathies, this technique could become a non-invasive clinical tool for the diagnosis work-up of telomeropathies.
Endpoint #2: To develop primary cell cultures for the functional study of new germline mutations.
To date, various germline mutations have already been identified in telomeropathy patients, in a total of 17 genes. Understanding how these mutations were affecting telomere biology relied on in vitro studies with either patient-derived fibroblasts or engineered human cell lines recapitulating the mutation. This was a mandatory step towards the molecular understanding of these pathologies. Because olfactory neural precursors have the capacity to grow in culture, this offers the additional possibility to perform functional studies on primary cultures of nasal brushing-derived cells for novel mutations, with still unknown impact on telomeres, that would be identified. Again, this could advantageously replace patients' fibroblast cultures established through skin biopsy.
Endpoint #3: To evaluate whether patients with telomeropathies have impaired olfactory function.
Olfactory function is decreased in several diseases and is increasingly recognized as an indicator of biological aging. To date, no data exist regarding the impact of telomeropathies on olfactory function. Therefore, investigators aim to psychophysically assess olfactory function in patients with telomeropathies, in comparison to age-matched healthy controls.
- Conditions
- Telomere Disease, Telomere Shortening
- Being tested
- Nasal brushing, Sniffin' Sticks
- Keywords
- telomere, cellular senescence, smell
- Medical subject headings
- Anosmia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nasal brushingDiagnostic test
Nasal brushing to harvest nasal cells and perform staining experiments
Sniffin' SticksDiagnostic test
Assessment of olfactory function
| Study group | Role | What they receive |
|---|---|---|
| Patients with confirmed or suspected telomeropathy | Experimental | Patients with idiopathic pulmonary fibrosis, adult or pediatric medullar dysplasia or myelodysplasia, unexplained liver cirrhosis or unexplained liver regenerative nodular hyperplasia. Receives: Diagnostic Test: Nasal brushing; Diagnostic Test: Sniffin' Sticks |
| Controls | Other | Age and sex-matched control participants Receives: Diagnostic Test: Nasal brushing; Diagnostic Test: Sniffin' Sticks |
What is being measured
The primary outcome is the main question the study is designed to answer.
To assess the suitability of nasal brushing analysis for the diagnosis of telomeropathies through evaluation of cellular senescence (SA-B-gal activity) and damaged telomeres (FISH/IF)
Investigators will evaluate if it is possible to detect damaged telomeres (via FISH/IF - Fluorescence In Situ Hybridation /ImmunoFluoresence -) and premature cellular senescence in patients (via SA-B-gal activity - Senescence Associated Beta-galactosidase activity measurement - and senescence associated biomarkers by qRT-PCR - quantitative Reverse Transcription - Polymerase Chain Reaction - ), in comparison to healthy controls.
Measured: 5 minutes
Secondary outcomes (1)
To develop primary cell cultures to study how the germline mutation affects telomere integrity in vitro through functional telomere assays
Cells harvested from the nasal mucosa will be cultived and analysed to detect telomeric DNA damage and premature cellular senescence
Measured: 5 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Aug 2022
- Study start1 Oct 2022
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Telomere DiseaseStudies of the same condition, open and under way.
- More trials run by Cliniques universitaires Saint-Luc- Université Catholique de LouvainThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- Prospective interventional study
- Masking
- None (open label)
- Enrolment
- 250 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Caroline Huart, MD, PhD, Principal investigator, Cliniques universitaires Saint-Luc- Université Catholique de Louvain
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05508321
- Sponsor's protocol ID
- 2022/07FEV/046
- Acronym
- TELOSTIC
- Status last verified
- Nov 2022
- First submitted
- 10 Aug 2022
- Last updated
- 4 Nov 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Nasal Brushing for the Diagnosis and Understanding of Telomeropathies
- ClinicalTrials.gov ID
- NCT05508321
- Acronym / sponsor ID
- TELOSTIC / 2022/07FEV/046
- Conditions
- Telomere Disease, Telomere Shortening
- Keywords
- telomere, cellular senescence, smell
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de LouvainUniversity, hospital or other
- Study start
- 1 Oct 2022 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 19 Aug 2022 (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.
To date, the diagnosis of telomeropathies is based on telomere length measured in blood cells. However, this type of analysis is not always sufficient because some mutations underlying the development of telomeropathies are not associated with abnormal shortened telomeres. Since telomere dysfunction analysis cannot be performed on blood cells, it is mandatory to have access to another cellular material. To date, skin biopsies are performed to obtain fibroblasts. However, this technique is relatively invasive. The aim of this project is to assess whether nasal epithelial cells obtained through nasal brushing could offer the opportunity to detect cellular alterations and mutations involved in telomeropathies, in a mildly invasive way. If successful, this technique could become a non-invasive clinical tool for the diagnosis work-up of telomeropathies. Moreover, investigators aim to assess whether olfactory function is impaired in patients with telomeropathies.
Detailed description
Endpoint #1: To assess the suitability of nasal brushing analyses for the diagnosis of telomeropathies.
To date, the complete diagnosis of telomeropathies, including the identification of responsible mutations, is based on blood samples and fibroblast cultures obtained through skin biopsies. Cells obtained through nasal brushing offer the opportunity to detect cellular alterations and mutations involved in telomeropathies, in a mildly invasive way. Investigators will thus assess a population of patients with a suspicion of telomeropathy, using a nasal brushing, and will compare their nasal brushing results to those of age-matched healthy controls. In patients, results of nasal brushing will be compared to standard of care blood test (leukocyte telomere length using Flow-FISH technique). If investigators confirm that the nasal brushing offers the opportunity to i) detect damaged telomeres and premature cellular senescence and ii) identify mutations related to telomeropathies, this technique could become a non-invasive clinical tool for the diagnosis work-up of telomeropathies.
Endpoint #2: To develop primary cell cultures for the functional study of new germline mutations.
To date, various germline mutations have already been identified in telomeropathy patients, in a total of 17 genes. Understanding how these mutations were affecting telomere biology relied on in vitro studies with either patient-derived fibroblasts or engineered human cell lines recapitulating the mutation. This was a mandatory step towards the molecular understanding of these pathologies. Because olfactory neural precursors have the capacity to grow in culture, this offers the additional possibility to perform functional studies on primary cultures of nasal brushing-derived cells for novel mutations, with still unknown impact on telomeres, that would be identified. Again, this could advantageously replace patients' fibroblast cultures established through skin biopsy.
Endpoint #3: To evaluate whether patients with telomeropathies have impaired olfactory function.
Olfactory function is decreased in several diseases and is increasingly recognized as an indicator of biological aging. To date, no data exist regarding the impact of telomeropathies on olfactory function. Therefore, investigators aim to psychophysically assess olfactory function in patients with telomeropathies, in comparison to age-matched healthy controls.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Prospective interventional study
| Arm | Type | Receives |
|---|---|---|
| Patients with confirmed or suspected telomeropathy | Experimental | Diagnostic Test: Nasal brushing, Diagnostic Test: Sniffin' SticksPatients with idiopathic pulmonary fibrosis, adult or pediatric medullar dysplasia or myelodysplasia, unexplained liver cirrhosis or unexplained liver regenerative nodular hyperplasia. |
| Controls | Other | Diagnostic Test: Nasal brushing, Diagnostic Test: Sniffin' SticksAge and sex-matched control participants |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Patients : Having a suspicion of or a confirmed telomeropathy
Key exclusion criteria (3 listed)
- Patients and controls:No access to the olfactory cleft Patients and controls: Abnormal endoscopic finding (i.e. meningocele, vascular ectasia)
- Patients and controls: History of neurological or psychiatric disorder known to interfere with olfactory function or olfactory trouble (postinfectious, posttraumatic, toxic) Patients and controls: History of chronic rhinosinusitis
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 |
|---|---|---|
| Nasal brushingNasal brushing to harvest nasal cells and perform staining experiments | Diagnostic test | Controls, Patients with confirmed or suspected telomeropathy |
| Sniffin' SticksAssessment of olfactory function | Diagnostic test | Controls, Patients with confirmed or suspected telomeropathy |
Primary outcome
To assess the suitability of nasal brushing analysis for the diagnosis of telomeropathies through evaluation of cellular senescence (SA-B-gal activity) and damaged telomeres (FISH/IF)
Time frame: 5 minutes
Investigators will evaluate if it is possible to detect damaged telomeres (via FISH/IF - Fluorescence In Situ Hybridation /ImmunoFluoresence -) and premature cellular senescence in patients (via SA-B-gal activity - Senescence Associated Beta-galactosidase activity measurement - and senescence associated biomarkers by qRT-PCR - quantitative Reverse Transcription - Polymerase Chain Reaction - ), in comparison to healthy controls.
1 secondary outcome
To develop primary cell cultures to study how the germline mutation affects telomere integrity in vitro through functional telomere assays
Time frame: 5 minutes
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Nov 2022.
- 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.
Caroline Huart, MD, PhD principal investigator
Cliniques universitaires Saint-Luc- Université Catholique de Louvain
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Nasal brushing and Sniffin' Sticks in people with Telomere Disease and Telomere Shortening, run by Cliniques universitaires Saint-Luc- Université Catholique de Louvain at 1 site in Belgium.
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 3 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: status not confirmed, as of the sponsor's last update on 4 Nov 2022. 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 Belgium. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Caroline Huart, MD, PhD (+3227646005, caroline.huart@saintluc.uclouvain.be), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To assess the suitability of nasal brushing analysis for the diagnosis of telomeropathies through evaluation of cellular senescence (SA-B-gal activity) and damaged telomeres (FISH/IF) (time frame: 5 minutes). 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 4 Nov 2022; AzTrials last refreshed its copy on 8 Nov 2026.