Friedreich AtaxiaORFANCT04631224
Longitudinal Analysis of Oral Communication in Friedreich's Ataxia
An observational study of Friedreich Ataxia, run by Institut National de la Santé Et de la Recherche Médicale, France.
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… Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Friedreich Ataxia
- How many people
- 40 participants
- Where
- No sites listed yet
- Study dates
- Feb 2015to Feb 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- Non-French speaking
- Psychiatric disorders
About this study
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.
Read the detailed 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.
- Conditions
- Friedreich Ataxia
- Medical subject headings
- Friedreich Ataxia
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Longitudinal timeframe with a first evaluation at baseline and second evaluation one year later
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Nov 2020
- Study startFeb 2015
- Primary completionDec 2016
- Study completionFeb 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04631224
- Sponsor's protocol ID
- C10-41
- Other IDs
- 2011-A00389-32
- Acronym
- ORFA
- Status last verified
- Aug 2015
- First submitted
- 31 Jul 2020
- Last updated
- 31 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Analysis of Oral Communication in Friedreich's Ataxia
- ClinicalTrials.gov ID
- NCT04631224
- Acronym / sponsor ID
- ORFA / C10-41
- Conditions
- Friedreich Ataxia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- Feb 2015 (actual)
- Primary completion
- Dec 2016 (actual)
- Study completion
- Feb 2017 (actual)
- First posted
- 17 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Age groups
- Adult, Older adult
- 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
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (2 listed)
- Non-French speaking
- Psychiatric disorders
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To identify a sensitive marker of disease progression in Friedreich's Ataxia patients by assessing the speech, voice, oromotor function, and hearing.
Time frame: Longitudinal timeframe with a first evaluation at baseline and second evaluation one year later
- 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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Jul 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Friedreich Ataxia, run by Institut National de la Santé Et de la Recherche Médicale, France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 31 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To identify a sensitive marker of disease progression in Friedreich's Ataxia patients by assessing the speech, voice, oromotor function, and hearing. (time frame: Longitudinal timeframe with a first evaluation at baseline and second evaluation one year later). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Jul 2026; AzTrials last refreshed its copy on 8 Nov 2026.