Nasal Brushing for the Diagnosis and Understanding of Telomeropathies

Launched by CLINIQUES UNIVERSITAIRES SAINT-LUC- UNIVERSITÉ CATHOLIQUE DE LOUVAIN · Aug 17, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a new way to diagnose telomeropathies, which are diseases related to the shortening of telomeres—protective caps at the ends of our chromosomes. Currently, doctors usually check telomere length in blood cells, but this method can miss some cases because certain genetic mutations don’t always cause shortened telomeres. To get better results, researchers want to see if they can analyze cells collected from the nose using a gentle nasal brushing technique. This method is less invasive than taking a biopsy from the skin. They are also looking into whether patients with telomeropathies have problems with their sense of smell.

To participate in this trial, you need to either have a suspected or confirmed telomeropathy. The study is open to people of all ages and genders, but some individuals may be excluded if they have certain medical conditions that could affect their sense of smell or if they have issues with their nasal area. If you join the trial, you can expect a simple nasal brushing procedure, and your olfactory (smell) function may also be assessed. The goal of this study is to find a more effective and non-invasive way to diagnose these conditions, which could make a big difference for patients.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients : Having a suspicion of or a confirmed telomeropathy
• Exclusion Criteria:
• • 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