Nasal Brushing for the Diagnosis and Understanding of Telomeropathies

NCT05508321 | Unknown

• 1 other identifier: 2022/07FEV/046
• Study Type: interventional
• Target: 250
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Telomere Disease; Telomere Shortening

Keywords

telomere; cellular senescence; smell

Outcome Measures

Primary Outcomes (1)

• 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.

  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

  5 minutes

Other Outcomes (1)

• To assess whether patients with telomeropathies have impaired olfactory function

  20 minutes

Study Arms (2)

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.

Diagnostic Test: Nasal brushing; Diagnostic Test: Sniffin' Sticks

Controls

OTHER

Age and sex-matched control participants

Diagnostic Test: Nasal brushing; Diagnostic Test: Sniffin' Sticks

Interventions

Nasal brushing DIAGNOSTIC_TEST

Nasal brushing to harvest nasal cells and perform staining experiments

Controls; Patients with confirmed or suspected telomeropathy

Sniffin' Sticks DIAGNOSTIC_TEST

Assessment of olfactory function

Controls; Patients with confirmed or suspected telomeropathy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients : Having a suspicion of or a confirmed telomeropathy

You may not qualify if:

• 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

Sponsors & Collaborators

• Cliniques universitaires Saint-Luc- Université Catholique de Louvain: lead

Study Sites (1)

Clinique Universitaires Saint-Luc

Brussels, Woluwé-Saint-Lambert, 1200, Belgium

RECRUITING

MeSH Terms

Conditions

Anosmia

Condition Hierarchy (Ancestors)

Olfaction Disorders; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Caroline Huart, MD, PhD

  Cliniques universitaires Saint-Luc- Université Catholique de Louvain

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Caroline Huart, MD, PhD

CONTACT

+3227646005; caroline.huart@saintluc.uclouvain.be

Anabelle Decottignies, PhD

CONTACT

+3227647574; anabelle.decottignies@uclouvain.be

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Prospective interventional study

Study Record Dates

• First Submitted: August 10, 2022
• First Posted: August 19, 2022
• Study Start: October 1, 2022
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: November 4, 2022

Record last verified: 2022-11

Data Sharing

• IPD Sharing: Will not share

Locations

BE (1)