Longitudinal Analysis of Oral Communication in Friedreich's Ataxia — ORFA  

Friedreich Ataxia Clinical Trial

Official title: Longitudinal Analysis of Oral Communication in Friedreich's Ataxia

Status Completed

Clinical Trial 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.

Clinical Trial Description

The ORFA research study will depend partly on the EFACTS consortium (European Friedreich's Ataxia Consortium for Translational Studies) in which the French center ICM participates since 2011 (principal investigator Pr Alexandra Durr). The clinical registry EFACTS has included 604 FA patients to date who are followed annually with the goal of collecting clinical and biological information via a database. In Paris, 50 FA patients are followed and receive a complete evaluation at each visit: clinical evaluations, blood test, cardiac evaluation, and neuropsychological evaluation. In addition, ORFA will be closely linked with the CERMOI project, entitled "Integrated functional evaluation of the cerebellum" which will study visual motor disturbances in FA. This project received funding in 2014 through the IHU-A-ICM, Institute of translational and neuroscientific research which includes 4 research teams at the ICM. CERMOI will combine clinical examination, recording of ocular movements, vestibular testing, gait and posture tests. ORFA will enable to assess the difficulties in articulation and hearing in FA patients and correlate this data with clinical and biological data collected in EFACTS. 50 francophone FA patients will be followed for 2 visits with a one-year interval in between. ;

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Friedreich Ataxia

• NCT number: NCT04631224
• Study type: Observational
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Status: Completed
• Start date: February 2015
• Completion date: February 2017