Longitudinal Analysis of Oral Communication in Friedreich's Ataxia

NCT04631224 | Completed

• 1 other identifier: 2011-000389-32
• Study Type: observational
• Target: 40
• Locations: 0 countries
• Sites: N/A

Brief Summary

Friedreich Ataxia (FA) is a hereditary neurological disease that is associated with a cerebellar syndrome and pyramidal symptoms. Clinical expression varies from one individual to another and throughout the evolution of the disease and is partially related to an abnormal expansion of the GAA triplet repeat in the frataxin gene. Dysarthria, a disorder in the motor production of speech, is always present in the clinical presentation of the disease (Schöls et al. 1997 ; Harding 1981 ; Dürr et al. 1996 ; Delatycki et al. 1999). It has been the subject of specific studies exploring the link between the evolution of dysarthria and disease progression (J. Folker et al. 2010; J. E. Folker et al. 2012; Rosen et al. 2012; Brendel et al. 2013). These studies allowed for the identification of markers for speech disintegration, specific to FA dysarthria, using perceptive voice measures, but also acoustics and objectives for qualifying voice and speech at the same time. The challenge is in finding measures sufficiently appropriate and sensitive to detect the evolution of these indicators throughout the course of the disease (Rosen et al. 2012). The neurological scales that take in to account all signs of a cerebellar syndrome are not sufficiently sensitive (Marelli et al. 2012). In addition, hearing difficulties develop during the course of the disease in addition to visual disturbances (gaze instability) which hinder communication. The ORFA study aims to evaluate oral communication in FA patients and identify appropriate measures that allow for the comparison of dysarthria pre and post-treatment in a clinical trial and can be used for the evaluation of efficacy.

Conditions

Friedreich Ataxia

Outcome Measures

Primary Outcomes (1)

• To identify a sensitive marker of disease progression in Friedreich's Ataxia patients by assessing the speech, voice, oromotor function, and hearing.

  \- Speech therapy assessment: We conduct a statistical study to cross-reference independent variables (age, sex…) and dependent variables. This is to identify relevant and sensitive metrics to capture changes over one year. Dysarthria is assessed by the compensations implemented by patients to maintain the intelligibility of their speech. For example, patients can compensate for their difficulty by slowing the speech flow to maintain good intelligibility. Speech therapy is based on the understanding of these compensation phenomena and uses them in rehabilitation. \- Recording of the hearing: This non-invasive examination will include tonal audiometry: detection of perception thresholds for sounds of different frequencies and voice audiometry to assess comprehension and intelligibility. This assessment may be supplemented by studying nerve conduction along the auditory pathways. These examinations help to identify the modalities of hearing rehabilitation.

  Longitudinal timeframe with a first evaluation at baseline and second evaluation one year later

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Inclusion Criteria: * To have Friedreich's Ataxia. * To be francophone * Being a reader * Agreeing to be part of a research protocol and longitudinal follow-up * Agree to provide access to medical records Exclusion Criteria: * Non-French speaking * Psychiatric disorders

You may qualify if:

• To have Friedreich's Ataxia.
• To be francophone
• Being a reader
• Agreeing to be part of a research protocol and longitudinal follow-up
• Agree to provide access to medical records

You may not qualify if:

• Non-French speaking
• Psychiatric disorders

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

MeSH Terms

Conditions

Friedreich Ataxia

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 31, 2020
• First Posted: November 17, 2020
• Study Start: February 1, 2015
• Primary Completion: December 1, 2016
• Study Completion: February 1, 2017
• Last Updated: November 19, 2020

Record last verified: 2015-08