Friedreich AtaxiaFAUSTNCT07508631
Friedreich Ataxia Nerve Ultrasund
An observational study of Friedreich Ataxia, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial summary
"Friedreich ataxia is the most common inherited autosomal recessive ataxia. It is caused by a GAA repeat expansion in the frataxin gene on chromosome 9q21.11. Symptoms usually begin in childhood, typically between 9 and 13 years of age. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- Nerve ultrasound - routine exam
- How many people
- 14 participants
- Where
- 1 siteFrance
- Study dates
- 1 Dec 2025to 30 Apr 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 18 to 70 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with genetically confirmed Friedriech Ataxia followed in the Neurogenetics Cmpetence Center at CHU de Nice
Who may be able to join
- Patients aged between 18 and 70 years.
- Genetically confirmed diagnosis of Friedreich's Ataxia.
- Followed at the Neurogenetics Competence Centre, CHU Nice.
- Have undergone peripheral nerve ultrasound between December 2025 and April 2026.
Who cannot join
- Patients for whom peripheral nerve ultrasound data is unavailable.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU de Nice
Nice, Alpes Maritimes
Andra EZARU, 0492039655 ext. + 33, ezaru.a@chu-nice.fr
Angela PUMA, 07 62 25 40 17 ext. +33, puma.ar@chu-nice.fr
About this study
Official title: Friedreich Ataxia Nerve Ultrasund and Clinical Correlations
"Friedreich ataxia is the most common inherited autosomal recessive ataxia. It is caused by a GAA repeat expansion in the frataxin gene on chromosome 9q21.11. Symptoms usually begin in childhood, typically between 9 and 13 years of age. The disease leads to progressive damage of the nervous system and the heart, as well as multisystem involvement of various degrees, leading to diabetes, vision and hearing loss and scoliosis. Over time, most patients lose the ability to walk and require a wheelchair, often by their mid-twenties. The severity and progression of the disease can vary depending on various factors such as the age at onset and the size of the GAA triplet expansion.
Traditionally, Friedreich ataxia has been considered a disorder primarily affecting nerve cells, also called neuronopathy. However, recent studies using ultrasound imaging of peripheral nerves have shown that some nerves may appear enlarged, particularly in the upper limbs. This is in contrast with findings usually observed in other neuronopathies, where peripheral nerves tend to become thinner.
Read more
The aim of this study is to use nerve ultrasound to better understand changes in intraneural vascularization and nerve in patients with Friedreich ataxia. In particular, we assess the presence of intraneural blood flow within the nerves using a high-resolution ultrasound technique.
The study includes 13 patients with genetically confirmed Friedreich ataxia who are followed at the Neurogenetics Competence Center of Nice University Hospital. Ultrasound examinations are performed on the median and ulnar nerves at standardized locations: for median nerve at wrist, forearm (10 cm from the distal wrist crease), antecubital fossa, mid-arm and axilla; for ulnar nerve at the wrist, forearm (10 cm from the pisiform bone), at the elbow (5 cm below and above the elbow), mid-arm and axilla; the brachial plexus is measured at level C5, C6, C7.
In addition to vascularization, we also measure nerve size (cross-sectional area) and evaluate internal nerve structure.
This study aims to improve understanding of nerve involvement in Friedreich ataxia and to explore whether ultrasound could provide useful markers of disease severity."
- Conditions
- Friedreich Ataxia
- Being tested
- Nerve ultrasound - routine exam
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nerve ultrasound - routine examDiagnostic test
Nerve ultrasound is a widely used imaging modality in clinical practice. It allows for the measurement of nerve cross-sectional area and provides detailed visualization of internal fascicular architecture and vascularization. These features can offer indirect information about underlying nerve pathology, such as inflammation or structural damage. Reference values have been established for different segments of the median and ulnar nerves, as well as for the brachial plexus
| Study group | Role | What they receive |
|---|---|---|
| Cohorte FA | Not described Receives: Diagnostic Test: Nerve ultrasound - routine exam |
What is being measured
The primary outcome is the main question the study is designed to answer.
Ultrasound assessement of intraneural vascularisation
Assessement of intraneural vascularisation by Doppler ultrasound 30 mn (composite criterion : clinical data, imaging data)
Measured: At the inclusion
Secondary outcomes (2)
Ultrasound assessement of peripheral nerve cross sectional area at predefined sites
Cross sectional area ultrasound measurement in mm of median nerve at wrist, forearm (10 cm from the distal wrist crease), antecubital fossa, mid-armmedian and ulnar nerves at wrist, forearm, mid - arm and ulnar nerve at the wrist, forearm (10 cm from the pisiform bone), at the elbow (5 cm below and above the elbow), mid-arm and axilla. The brachial plexus was measured at level C5, C6, C7 30 minutes (composite criterion : clinical data, imaging data)
Measured: At the inclusion
Ultrasound assessement of peripheral nerve internal structure at predefined sites
Ultrasound assessement of peripheral nerve echogenicity defined as hypo/hyperechogenic and internal fascicular disposition defined as preserved / loss of internal fascicular pattern (composite criterion : clinical data, imaging data)
Measured: At the inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2026
- Study start1 Dec 2025
- Primary completion30 Apr 2026 (estimated)
- Study completion30 Apr 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 Centre Hospitalier Universitaire de NiceThe 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
- Retrospective
- Enrolment
- 14 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07508631
- Sponsor's protocol ID
- 26Neuro02
- Acronym
- FAUST
- Status last verified
- Mar 2026
- First submitted
- 27 Mar 2026
- Last updated
- 2 Apr 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 2 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Friedreich Ataxia Nerve Ultrasund and Clinical Correlations
- ClinicalTrials.gov ID
- NCT07508631
- Acronym / sponsor ID
- FAUST / 26Neuro02
- Conditions
- Friedreich Ataxia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 14 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 1 Dec 2025 (actual)
- Primary completion
- 30 Apr 2026 (estimated)
- Study completion
- 30 Apr 2026 (estimated)
- First posted
- 2 Apr 2026 (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 is the most common inherited autosomal recessive ataxia. It is caused by a GAA repeat expansion in the frataxin gene on chromosome 9q21.11. Symptoms usually begin in childhood, typically between 9 and 13 years of age. The disease leads to progressive damage of the nervous system and the heart, as well as multisystem involvement of various degrees, leading to diabetes, vision and hearing loss and scoliosis. Over time, most patients lose the ability to walk and require a wheelchair, often by their mid-twenties. The severity and progression of the disease can vary depending on various factors such as the age at onset and the size of the GAA triplet expansion.
Traditionally, Friedreich ataxia has been considered a disorder primarily affecting nerve cells, also called neuronopathy. However, recent studies using ultrasound imaging of peripheral nerves have shown that some nerves may appear enlarged, particularly in the upper limbs. This is in contrast with findings usually observed in other neuronopathies, where peripheral nerves tend to become thinner.
The aim of this study is to use nerve ultrasound to better understand changes in intraneural vascularization and nerve in patients with Friedreich ataxia. In particular, we assess the presence of intraneural blood flow within the nerves using a high-resolution ultrasound technique.
The study includes 13 patients with genetically confirmed Friedreich ataxia who are followed at the Neurogenetics Competence Center of Nice University Hospital. Ultrasound examinations are performed on the median and ulnar nerves at standardized locations: for median nerve at wrist, forearm (10 cm from the distal wrist crease), antecubital fossa, mid-arm and axilla; for ulnar nerve at the wrist, forearm (10 cm from the pisiform bone), at the elbow (5 cm below and above the elbow), mid-arm and axilla; the brachial plexus is measured at level C5, C6, C7.
In addition to vascularization, we also measure nerve size (cross-sectional area) and evaluate internal nerve structure.
This study aims to improve understanding of nerve involvement in Friedreich ataxia and to explore whether ultrasound could provide useful markers of disease severity."
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohorte FA | – | Diagnostic Test: Nerve ultrasound - routine exam |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with genetically confirmed Friedriech Ataxia followed in the Neurogenetics Cmpetence Center at CHU de Nice
Key inclusion criteria (4 listed)
- Patients aged between 18 and 70 years.
- Genetically confirmed diagnosis of Friedreich's Ataxia.
- Followed at the Neurogenetics Competence Centre, CHU Nice.
- Have undergone peripheral nerve ultrasound between December 2025 and April 2026.
Key exclusion criteria (1 listed)
- Patients for whom peripheral nerve ultrasound data is unavailable.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Nerve ultrasound - routine examNerve ultrasound is a widely used imaging modality in clinical practice. It allows for the measurement of nerve cross-sectional area and provides detailed visualization of internal fascicular architecture and vascularization. These features can offer indirect information about underlying nerve pathology, such as inflammation or structural damage. Reference values have been established for different segments of the median and ulnar nerves, as well as for the brachial plexus | Diagnostic test | Cohorte FA |
Primary outcome
Ultrasound assessement of intraneural vascularisation
Time frame: At the inclusion
Assessement of intraneural vascularisation by Doppler ultrasound 30 mn (composite criterion : clinical data, imaging data)
2 secondary outcomes
Ultrasound assessement of peripheral nerve cross sectional area at predefined sites
Time frame: At the inclusion
Ultrasound assessement of peripheral nerve internal structure at predefined sites
Time frame: At the inclusion
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 2 Apr 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.
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 Centre Hospitalier Universitaire de Nice 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 1 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: looking for participants now, as of the sponsor's last update on 2 Apr 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?
Contact Andra Ezaru (07 80 65 10 81 ext. + 33, ezaru.a@chu-nice.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ultrasound assessement of intraneural vascularisation (time frame: At the inclusion). 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 2 Apr 2026.