Peripheral nervous system imaging in Friedreich ataxia.

Multimodal peripheral nervous system imaging to quantify, monitor, and understand the neuropathy of Friedreich ataxia - Peripheral nervous system imaging in Friedreich ataxia

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON57026

Enrollment

Registered

2024-09-30

Start date

2025-01-22

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Friedreich ataxia Friedreich ataxia

Interventions

Nvt

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: Friedreich ataxia: (1) Adults with (2) genetically confirmed FA, and (3) able and willing to sign the informed consent. Healthy controls: Age- and sex-matched healthy controls (without a medical history of neurological disorders), able and willing to sign the informed consent.

Exclusion criteria

Exclusion criteria: Other diseases or conditions associated with neuropathy (e.g., inflammatory neuropathy, hereditary neuropathy, previous exposure to cytostatic drugs, etc.).

Design outcomes

Primary

Measure	Time frame
Nerve ultrasound: - Cross-sectional areas of the median, ulnar, tibial, and sural nerve, and extraforaminal C5, C6, and C7 nerve roots, interscalene brachial plexus elements, and supraclavicular brachial plexus. Ultrahigh-frequency nerve ultrasound of the median nerve at the wrist: - Number of fascicles within the median nerve and their individual cross-sectional areas. DRG MRI: - Volumes of the L3, L4, L5, S1, and S2 DRG.	—

Measure

Time frame

Nerve ultrasound: - Cross-sectional areas of the median, ulnar, tibial, and sural nerve, and extraforaminal C5, C6, and C7 nerve roots, interscalene brachial plexus elements, and supraclavicular brachial plexus. Ultrahigh-frequency nerve ultrasound of the median nerve at the wrist: - Number of fascicles within the median nerve and their individual cross-sectional areas. DRG MRI: - Volumes of the L3, L4, L5, S1, and S2 DRG.

—

Secondary

Measure	Time frame
Nerve conduction studies: - Sensory nerve action potential (SNAP) amplitudes and conduction velocities of the median, ulnar, and sural nerves. - Compound muscle action potential (CMAP) amplitudes, motor nerve conduction velocities, and distal motor latencies of the median, ulnar, and tibial nerves. Plasma neurofilament light chain concentration. Frataxin levels in tear fluid Clinical measures / questionnaires: a) Friedreich Ataxia Rating Scale (FARS), b) Scale for the Assessment and Rating of Ataxia (SARA), c) Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia), d) EQ-5D-5L, e) Patient Health Questionnaire-9 (PHQ-9), f) Checklist Individual Strength-Fatigue (CIS-Fatigue), g) Muscle Cramp Scale (MCS) and Cramp Disability Scale (CDS), h) Neuropathic Pain Scale (NPS), i) Pittsburgh Sleep Quality Index (PSQI), j) International Restless Legs Scale (IRLS), k) Patient Global Impression of Change (PGIC) scale.	—

Measure

Time frame

Nerve conduction studies: - Sensory nerve action potential (SNAP) amplitudes and conduction velocities of the median, ulnar, and sural nerves. - Compound muscle action potential (CMAP) amplitudes, motor nerve conduction velocities, and distal motor latencies of the median, ulnar, and tibial nerves. Plasma neurofilament light chain concentration. Frataxin levels in tear fluid Clinical measures / questionnaires: a) Friedreich Ataxia Rating Scale (FARS), b) Scale for the Assessment and Rating of Ataxia (SARA), c) Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia), d) EQ-5D-5L, e) Patient Health Questionnaire-9 (PHQ-9), f) Checklist Individual Strength-Fatigue (CIS-Fatigue), g) Muscle Cramp Scale (MCS) and Cramp Disability Scale (CDS), h) Neuropathic Pain Scale (NPS), i) Pittsburgh Sleep Quality Index (PSQI), j) International Restless Legs Scale (IRLS), k) Patient Global Impression of Change (PGIC) scale.

—

Countries

Netherlands

Contacts

Public ContactR. P P. W. M. Maas

Radboud Universitair Medisch Centrum

Roderick.Maas@radboudumc.nl0243616600

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP) · Data processed: Jul 3, 2026