NCT04703595: CANVAS

Chronic Cough and CANVAS (Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome)

Completed Last updated 20 December 2023

What this trial tests

trial testing To determine the presence of biallelic expansion of AAGGG in RFC1 in patients with chronic cough, regardless of the presence of neurological symptoms. in Cough in 50 participants. Completed in 30 September 2023.

Timeline

1 January 2022

Primary endpoint
30 June 2023

30 September 2023

Quick facts

Lead sponsor	Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Status	Completed
Study type	OBSERVATIONAL
Enrollment	50
Start date	1 January 2022
Primary completion	30 June 2023
Estimated completion	30 September 2023
Sites	1 location across Spain

Drugs / interventions tested

• To determine the presence of biallelic expansion of AAGGG in RFC1 in patients with chronic cough, regardless of the presence of neurological symptoms.

Conditions studied

• Cough — all drugs for Cough →
• Cerebellar Ataxia — all drugs for Cerebellar Ataxia →
• Gastroesophageal Reflux — all drugs for Gastroesophageal Reflux →

Sponsor

Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Who can join

Adults 30 to 99, any sex, with Cough or Cerebellar Ataxia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Chronic cough is a frequent cause of Pneumology consultations. CANVAS syndrome (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia Syndrome) is a progressive and disabling neurological disease that very frequently occurs with chronic cough. This cough invariably appears as a prodromal symptom that precedes neurological symptoms. The biallelic expansion of AAGGG in RFC1, a causal mutation in CANVAS syndrome, appears with high frequency in the general population. Objectives: Main: To determine the presence of biallelic expansion of AAGGG in RFC1 in patients with chronic cough, regardless of the presence of neurological symptoms. Secondary: Describe the phenotypic, functional and inflammatory characteristics of these patients. and Know the relationship between gastroesophageal reflux and chronic cough in patients with CANVAS. Method: A descriptive cross-sectional pilot study including 50 non-smoking patients between the ages of 30 and 99 years with chronic and / or refractory cough as the only manifestation or associated with gastroesophageal reflux. All patients will undergo the pertinent studies for the diagnosis of chronic cough, those who meet criteria for suspicion of gastroesophageal reflux will be requested an esophageal phmetry and esophageal manometry. Peripheral venous blood sample will be obtained for subsequent genetic analysis. Vibration sensitivity will be studied in all patients regardless of the presence of mutation. Those with alterations in vibratory sensitivity or mutations in RFC1 will be referred to the Neurology Service for a complementary neurological evaluation. For the molecular study of the DNA sample of the patients, two techniques will be used: standard Polymerase chain reaction amplification with primers flanking the intron 2 fragment of the RFC1 gene and amplification using Repeated Primed Polymerase chain reaction in 3 independent reactions.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).
   Palones E, Curto E, Plaza V, Gonzalez-Quereda L, et al · · 2024 · cited 7× · PMID 37917234 · DOI 10.1007/s00415-023-12001-9