Ignite Creation Date:
2024-05-06 @ 3:38 PM
Last Modification Date:
2024-10-26 @ 1:53 PM
Study NCT ID:
NCT04703595
Status:
COMPLETED
Last Update Posted:
2023-12-20
First Post:
2021-01-05
Brief Title:
Chronic Cough and CANVAS Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome
Sponsor:
Fundació Institut de Recerca de lHospital de la Santa Creu i Sant Pau
Organization:
Fundació Institut de Recerca de lHospital de la Santa Creu i Sant Pau
Study Overview
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
Status:
COMPLETED
Status Verified Date:
2022-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
CANVAS
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None