Friedreich AtaxiaCPCAFNCT05874388
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
An observational study of Friedreich Ataxia, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. Read more about this study
- Who is it for?
- Ages 13 years and olderHealthy volunteers can take part
- Conditions the study is for
- Friedreich Ataxia
- How many people
- 70 participants
- Where
- 1 siteFrance
- Study dates
- 19 Jun 2023to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 13 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The study will involve two groups: * a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital * a control group comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study.
Who may be able to join
- Patient group :
- Patients aged 13 years or older Patients with FA confirmed by genetic study Compliant patients willing to undergo all tests Enrolled in a social security scheme or beneficiary of such a scheme
- Control group :
- Subjects aged 13 years or older Genetic characterisation to exclude the presence of alterations in the FXN gene No motor or cognitive impairment Compliant subjects willing to undergo all tests Membership in a social security scheme or beneficiary of such a scheme
Who cannot join
- Patient group :
- Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non compliant patient according to the Investigator's opinion Person subject to a legal protection measure
- Control group :
- Alteration in the frataxin gene Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non-compliant patient in the opinion of the Investigator Person subject to a legal protection measure
Trial locations and contacts
1 site in 1 country.
About this study
Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. At the neurophysiological level, FA is characterised by neuronal loss affecting the dorsal root ganglia, spinal cord and cerebellum. At present, daily exercise is the only way to combat the disease. There is no cure for Friedreich's ataxia. Clinically, FA mainly combines balance, movement coordination, articulation (dysarthria) with cardiac involvement and sometimes diabetes . After a few years of evolution, walking is no longer possible. Recent data ; also indicate disturbances in information processing and cognitive functioning. In short, FA involves adolescents who progressively lose walking, writing and speech for some; however, each patient progresses differently with respect to the disease, and this is the case with respect to motor and cognitive symptoms.
Read the detailed description
The role of behavioural and cognitive assessment in the clinical trial The effectiveness of a treatment is ultimately determined by the elimination of the physiological cause of the disease and the alleviation of the symptoms that patients suffer. However, new treatments rarely eliminate all causes and symptoms of the disease. As long as the effectiveness of a treatment is unknown, it is subtle changes in parameters that decide whether the approach taken is worth pursuing. For a clinical trial which is supposed to evaluate the effectiveness of a treatment for Friedreich's Ataxia, it is therefore necessary to evaluate subtle changes in the functioning of the motor and cognitive system induced by the treatment. For this reason, the project is assembling a battery of tests that quantify the most important aspects of motor, cognitive and speech function in patients with FA. These tests are designed with the specific needs of FA patients in mind, i.e. on the one hand, the tests assess functions that are particularly important in view of the symptoms of Friedreich's disease indicated in the scientific literature, and on the other hand, the psychometric characteristics of the tests are adapted to the general abilities of FA patients. In this respect, it is important to point out that the expansion of the GAA repetition in people with Friedreich's disease varies from 150 to 1,000 triples (compared to 7 to 25 in the rest of the population), and that this large variation in the genotype of FA patients could potentially influence the cognitive profile of the participants. Previous studies have suggested the relationship between the number of repeats of the GAA triplet of the FXN gene and performance in cognitive assessment tests. Specifically, while in FA patients both alleles of the FXN gene contain an unusually high number of GAA repeats, performance in cognitive tests would correlate with the number of GAA repeats in the allele that contains fewer such repeats. Using this test battery, we are therefore able to achieve our main objective, i.e. to characterise the cognitive profile of FA patients as a function of the number of GAA triplet repeats of the FXN gene. Specifically, the test battery will establish whether motor, executive and speech symptoms affect patients differently according to their particular genetic characteristics.
- Conditions
- Friedreich Ataxia
- Keywords
- FRATAXINE
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Control Group | Comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary. | |
| Symptomatic participants | The study will involve a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary. The validation of the results obtained will be determined by the correlation indices between the cognitive test scores used and the demographic variables and disease parameters considered, in particular the number of GAA triplet repeats in the allele of the FXN gene that contains the fewest repeats. |
What is being measured
The primary outcome is the main question the study is designed to answer.
characterization of the cognitive profile of patients suffering from Friedreich's Ataxia as a function of the number of GAA triplet repeats in the allele of the FXN gene that contains the least number of repeats.
Correlation of cognitive test scores
Measured: through study completion, an average of 3 years
Secondary outcomes (4)
Characterization of the motor profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Correlation of motor test scores with demographic variables demographic variables, disease parameters
Measured: through study completion, an average of 3 years
Characterization of the executive profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Correlation of scores on tests of executive functions
Measured: through study completion, an average of 3 years
Characterization of the speech production profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Correlation of speech production assessment test scores with demographic variables, disease-related parameters
Measured: through study completion, an average of 3 years
To determine which dimensions of cognitive functioning are affected in patients with Friedreich's Ataxia and to verify the sensitivity of tests aimed at evaluating these dimensions to detect deficits in patients compared to healthy healthy subjects.
Comparison of motor test scores between patients and controls. Comparison of executive function test scores between patients and controls. Comparison of speech evaluation test scores between patients and controls.
Measured: through study completion, an average of 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 May 2023
- Study start19 Jun 2023
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Benoit Funalot, Principal investigator, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05874388
- Sponsor's protocol ID
- C22-77
- Other IDs
- 2023-A00290-45
- Acronym
- CPCAF
- Status last verified
- Nov 2026
- First submitted
- 7 Feb 2023
- Last updated
- 4 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
- ClinicalTrials.gov ID
- NCT05874388
- Acronym / sponsor ID
- CPCAF / C22-77
- Conditions
- Friedreich Ataxia
- Keywords
- FRATAXINE
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 19 Jun 2023 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 24 May 2023 (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's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. At the neurophysiological level, FA is characterised by neuronal loss affecting the dorsal root ganglia, spinal cord and cerebellum. At present, daily exercise is the only way to combat the disease. There is no cure for Friedreich's ataxia. Clinically, FA mainly combines balance, movement coordination, articulation (dysarthria) with cardiac involvement and sometimes diabetes . After a few years of evolution, walking is no longer possible. Recent data ; also indicate disturbances in information processing and cognitive functioning. In short, FA involves adolescents who progressively lose walking, writing and speech for some; however, each patient progresses differently with respect to the disease, and this is the case with respect to motor and cognitive symptoms.
Detailed description
The role of behavioural and cognitive assessment in the clinical trial The effectiveness of a treatment is ultimately determined by the elimination of the physiological cause of the disease and the alleviation of the symptoms that patients suffer. However, new treatments rarely eliminate all causes and symptoms of the disease. As long as the effectiveness of a treatment is unknown, it is subtle changes in parameters that decide whether the approach taken is worth pursuing. For a clinical trial which is supposed to evaluate the effectiveness of a treatment for Friedreich's Ataxia, it is therefore necessary to evaluate subtle changes in the functioning of the motor and cognitive system induced by the treatment. For this reason, the project is assembling a battery of tests that quantify the most important aspects of motor, cognitive and speech function in patients with FA. These tests are designed with the specific needs of FA patients in mind, i.e. on the one hand, the tests assess functions that are particularly important in view of the symptoms of Friedreich's disease indicated in the scientific literature, and on the other hand, the psychometric characteristics of the tests are adapted to the general abilities of FA patients. In this respect, it is important to point out that the expansion of the GAA repetition in people with Friedreich's disease varies from 150 to 1,000 triples (compared to 7 to 25 in the rest of the population), and that this large variation in the genotype of FA patients could potentially influence the cognitive profile of the participants. Previous studies have suggested the relationship between the number of repeats of the GAA triplet of the FXN gene and performance in cognitive assessment tests. Specifically, while in FA patients both alleles of the FXN gene contain an unusually high number of GAA repeats, performance in cognitive tests would correlate with the number of GAA repeats in the allele that contains fewer such repeats. Using this test battery, we are therefore able to achieve our main objective, i.e. to characterise the cognitive profile of FA patients as a function of the number of GAA triplet repeats of the FXN gene. Specifically, the test battery will establish whether motor, executive and speech symptoms affect patients differently according to their particular genetic characteristics.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Control Group | – | –Comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary. |
| Symptomatic participants | – | –The study will involve a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary. The validation of the results obtained will be determined by the correlation indices between the cognitive test scores used and the demographic variables and disease parameters considered, in particular the number of GAA triplet repeats in the allele of the FXN gene that contains the fewest repeats. |
Who may qualify
- Ages
- 13 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study will involve two groups: * a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital * a control group comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study.
Key inclusion criteria (4 listed)
- Patient group :
- Patients aged 13 years or older Patients with FA confirmed by genetic study Compliant patients willing to undergo all tests Enrolled in a social security scheme or beneficiary of such a scheme
- Subjects aged 13 years or older Genetic characterisation to exclude the presence of alterations in the FXN gene No motor or cognitive impairment Compliant subjects willing to undergo all tests Membership in a social security scheme or beneficiary of such a scheme
Key exclusion criteria (4 listed)
- Patient group :
- Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non compliant patient according to the Investigator's opinion Person subject to a legal protection measure
- Alteration in the frataxin gene Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non-compliant patient in the opinion of the Investigator Person subject to a legal protection measure
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
characterization of the cognitive profile of patients suffering from Friedreich's Ataxia as a function of the number of GAA triplet repeats in the allele of the FXN gene that contains the least number of repeats.
Time frame: through study completion, an average of 3 years
Correlation of cognitive test scores
4 secondary outcomes
Characterization of the motor profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Time frame: through study completion, an average of 3 years
Characterization of the executive profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Time frame: through study completion, an average of 3 years
Characterization of the speech production profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Time frame: through study completion, an average of 3 years
To determine which dimensions of cognitive functioning are affected in patients with Friedreich's Ataxia and to verify the sensitivity of tests aimed at evaluating these dimensions to detect deficits in patients compared to healthy healthy subjects.
Time frame: through study completion, an average of 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Nov 2026.
- Individual participant dataSharing planned: No
Related trials for Friedreich Ataxia
RecruitingPhase 1
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
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Efficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's Ataxia
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Recruiting
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
Friedreich's Ataxia, Motor Disorders
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 2
An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia
Friedreich Ataxia
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.
Benoit Funalot principal investigator
APHP
1 site in 1 country: see every site and its status.
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 at 1 site in 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 4 inclusion and 4 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: under way, not looking for participants, as of the sponsor's last update on 4 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
This study is still under way. Results are not available in the source record yet.
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?
characterization of the cognitive profile of patients suffering from Friedreich's Ataxia as a function of the number of GAA triplet repeats in the allele of the FXN gene that contains the least number of repeats. (time frame: through study completion, an average of 3 years). 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 4 Nov 2026.