Friedreich Ataxia Nerve Ultrasund (FAUST)

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.

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 Overview

• Status: Recruiting
• Conditions: Friedreich Ataxia
• Intervention / Treatment: Diagnostic test: Nerve ultrasound - routine exam

• Study Type: Observational
• Enrollment (Estimated): 14

Contacts and Locations

• Study Contact: Name: Andra Ezaru; Phone Number: + 33 07 80 65 10 81; Email: ezaru.a@chu-nice.fr
• Study Contact Backup: Name: Angela PUMA; Phone Number: +33 07 62 25 40 17; Email: puma.ar@chu-nice.fr

Study Locations

• France
  • Alpes Maritimes
    • Nice, Alpes Maritimes, France
      • Recruiting
      • CHU de Nice
      • Contact: Angela PUMA; Phone Number: +33 07 62 25 40 17; Email: puma.ar@chu-nice.fr
      • Contact: Andra EZARU; Phone Number: + 33 0492039655; Email: ezaru.a@chu-nice.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with genetically confirmed Friedriech Ataxia followed in the Neurogenetics Cmpetence Center at CHU de Nice

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Cohorte FA

Diagnostic test: Nerve ultrasound - routine exam; 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ultrasound assessement of intraneural vascularisation	Assessement of intraneural vascularisation by Doppler ultrasound 30 mn (composite criterion : clinical data, imaging data)	At the inclusion

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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)	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)	At the inclusion

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2025
• Primary Completion (Estimated): April 30, 2026
• Study Completion (Estimated): April 30, 2026

Study Registration Dates

• First Submitted: March 27, 2026
• First Submitted That Met QC Criteria: March 27, 2026
• First Posted (Actual): April 2, 2026

Study Record Updates

• Last Update Posted (Actual): April 2, 2026
• Last Update Submitted That Met QC Criteria: March 27, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Spinal Cord Diseases; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Friedreich Ataxia
• Other Study ID Numbers: 26Neuro02

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No