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

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Brief Title

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

Official Title

Chronic Cough and CANVAS (Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome): Screening for Mutations in Subunit 1 of the Replication Factor Complex: Initial Pilot Study

Brief Summary

      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.
    

Detailed Description

      A descriptive cross-sectional pilot study that included 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 suspected gastroesophageal reflux will be asked for an esophageal phmetry
      and esophageal manometry, according to the usual clinical practice.

      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.
    


Study Type

Observational [Patient Registry]


Primary Outcome

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

Secondary Outcome

 Know the phenotypic, functional and inflammatory characteristics of these patients

Condition

Cough

Intervention

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

Study Arms / Comparison Groups

 50 non-smoking patients with chronic cough
Description:  50 non-smoking patients aged between 30 and 99 years with chronic and / or refractory cough as the only manifestation or associated with gastroesophageal reflux

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

50

Start Date

June 1, 2021

Completion Date

June 30, 2023

Primary Completion Date

June 30, 2022

Eligibility Criteria

        Inclusion Criteria:

          -  Non-smokers

          -  Aged between 30 and 99 years

          -  with chronic and / or refractory cough as the only manifestation or associated with
             gastroesophageal reflux, who have signed the informed consent will be included.

        Exclusion Criteria:

          -  Other causes of cough other than gastroesophageal reflux: pneumological diseases
             (asthma, Chronic obstructive pulmonary disease, bronchiectasis, tracheomalacia, cystic
             fibrosis, residual pleural diseases, interstitial diseases, infectious diseases.)

          -  Upper airway pathologies (rhinitis, sinusitis)

          -  Foreign bodies

          -  Smokers or ex-smokers

          -  Symptoms of associated respiratory allergies

          -  Severe associated comorbidity.

          -  Autoimmune disease or systemic inflammatory disease.

          -  Active immunodeficiency.

          -  Neoplastic disease.
      

Gender

All

Ages

30 Years - 99 Years

Accepts Healthy Volunteers

No

Contacts

Astrid Crespo, MD,PhD, +34-93 556 56 01, [email protected]



Administrative Informations


NCT ID

NCT04703595

Organization ID

IIBSP-TOS-2020-143


Responsible Party

Sponsor

Study Sponsor

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


Study Sponsor

Astrid Crespo, MD,PhD, Principal Investigator, Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau


Verification Date

January 2021