ClinicalTrials.gov record NCT07508631

Friedreich Ataxia Nerve Ultrasund

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 7, 2026

Friedreich Ataxia Nerve Ultrasund and Clinical Correlations

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old to 70 years old
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This retrospective observational study reviews routine nerve ultrasound exams from adults with genetically confirmed Friedreich ataxia. It looks at intraneural blood flow (using Doppler), nerve cross-sectional area, and internal nerve structure at predefined sites. The study aims to relate these ultrasound findings to clinical measures of disease.

What it is studying. The study tests whether detailed nerve ultrasound images—including Doppler assessment of intraneural blood flow, measurements of nerve size, and evaluation of internal nerve appearance—can describe nerve changes in people with Friedreich ataxia and how those imaging features relate to clinical data.

What the researchers hope to learn. To improve understanding of nerve involvement in Friedreich ataxia and to explore whether ultrasound measures (intraneural vascularization, cross-sectional area, internal structure) could serve as markers related to disease severity.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

"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."

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Nerve ultrasound - routine exam

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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.

Exclusion criteria

  • Patients for whom peripheral nerve ultrasound data is unavailable.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

The study uses participants' existing clinical records and the peripheral nerve ultrasound exams performed between December 2025 and April 2026. Researchers will review the ultrasound images to assess intraneural blood flow (Doppler), nerve size (cross-sectional area) and internal nerve structure at predefined sites. The record describes analysis of previously collected imaging and clinical data; no new invasive procedures are listed.

How the study is structured. A retrospective observational cohort study. Researchers analyze existing routine diagnostic nerve ultrasounds (including Doppler) and linked clinical information collected at a single time point for the study participants.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Friedreich ataxia

Clinical trials26 trials listed for Friedreich ataxiaEvery trial the registry lists for Friedreich ataxia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Friedreich ataxia researchLatest monthly update: September 2026. Includes: Heart change stages. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Dec 1, 2025
Primary completion
Apr 30, 2026 (estimated)
Study completion
Apr 30, 2026 (estimated)
Target enrollment
14 participants (estimated)
Last updated on registry
Apr 2, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Centre Hospitalier Universitaire de Nice

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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