Friedreich Ataxia Nerve Ultrasund

NCT07508631 | Recruiting

• 1 other identifier: 26Neuro02
• Study Type: observational
• Target: 14
• Locations: 1 country
• Sites: 1

Brief 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. 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."

Conditions

Friedreich Ataxia

Outcome Measures

Primary Outcomes (1)

• Ultrasound assessement of intraneural vascularisation

  Assessement of intraneural vascularisation by Doppler ultrasound 30 mn (composite criterion : clinical data, imaging data)

  At the inclusion

Secondary Outcomes (2)

• Ultrasound assessement of peripheral nerve cross sectional area at predefined sites

  At the inclusion

• Ultrasound assessement of peripheral nerve internal structure at predefined sites

  At the inclusion

Study Arms (1)

Cohorte FA

Diagnostic Test: Nerve ultrasound - routine exam

Interventions

Nerve ultrasound - routine exam DIAGNOSTIC_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

Cohorte FA

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

• Patients for whom peripheral nerve ultrasound data is unavailable.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (1)

CHU de Nice

Nice, Alpes Maritimes, France

RECRUITING

MeSH Terms

Conditions

Friedreich Ataxia

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Andra Ezaru

CONTACT

07 80 65 10 81; ezaru.a@chu-nice.fr

Angela Puma

CONTACT

07 62 25 40 17; puma.ar@chu-nice.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 27, 2026
• First Posted: April 2, 2026
• Study Start: December 1, 2025
• Primary Completion: April 30, 2026
• Study Completion: April 30, 2026
• Last Updated: April 2, 2026

Record last verified: 2026-03

Locations

FR (1)