MedTrace Logo

Nasal Brushing for the Diagnosis and Understanding of Telomeropathies

NCT05508321 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 250

Last updated 2022-11-04

No results posted yet for this study

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

Interventions

DIAGNOSTIC_TEST

Nasal brushing

Nasal brushing to harvest nasal cells and perform staining experiments

DIAGNOSTIC_TEST

Sniffin' Sticks

Assessment of olfactory function

Sponsors & Collaborators

  • Cliniques universitaires Saint-Luc- Université Catholique de Louvain

    lead OTHER

Principal Investigators

  • Caroline Huart, MD, PhD · Cliniques universitaires Saint-Luc- Université Catholique de Louvain

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-10-01
Primary Completion
2025-12-31
Completion
2025-12-31

Countries

  • Belgium

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05508321 on ClinicalTrials.gov