Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia

NCT07731971 | Not Yet Recruiting

• 4 other identifiers: STEP-OUT-FA-364818RMC 25-0436481825-26-27
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Friedreich ataxia (FA) is a rare, inherited condition that progressively affects balance, coordination, and walking. Clinical trials of new FA treatments rely largely on standard clinical rating scales, but these can be tiring for patients, feel disconnected from everyday life, and may not detect small but meaningful changes over time. More objective, sensitive, and patient-relevant ways of measuring movement are needed. This study is developing and testing a new digital way of measuring movement in FA. Participants play short, movement-based computer games on a laptop while a single camera and artificial-intelligence (AI) software track how they move. The proposition is that the way a person plays these games - their speed, accuracy, and movement quality - can provide objective, meaningful measurements of motor function. In the laboratory, these game-based measurements are compared against a "gold-standard" full-body motion-capture system and against established clinical scales to check how accurate and meaningful they are. The study involves both people with Friedreich ataxia (across a range of disease severity) and healthy volunteers. People with FA also take part in a 12-week home phase, playing the games at home each month with remote support, so the researchers can examine whether the digital measurements are reliable when repeated and whether they can detect change over time. The study asks whether these digital, game-based movement measurements are reliable, valid, and sensitive enough to be used as a "fit-for-purpose" digital clinical outcome assessment (dCOA) in future FA clinical trials, and whether patients find the platform acceptable, usable, and relevant to daily life. This is an early-stage feasibility and validation study designed to establish proof of concept rather than to test the effectiveness of a treatment.

Conditions

Friedreich Ataxia

Keywords

digital clinical outcome assessment; markerless motion capture; artificial intelligence; active video gaming; virtual reality; motor performance; test-retest reliability; balance and coordination; rare disease

Outcome Measures

Primary Outcomes (6)

• Concurrent validity of game-based movement performance against the mFARS - Friedreich ataxia cohort.

  Spearman correlation coefficient (ρ; unitless) between game-based movement accuracy (Absolute Error), precision (Variable Error), reaction time, movement time and the modified Friedreich's Ataxia Rating Scale (mFARS) total score (range 0-93; higher = greater neurological impairment), in the Friedreich ataxia cohort.

  Baseline laboratory visit (Week 0)

• Criterion validity of AI markerless motion capture versus marker-based motion capture - Healthy Controls and Friedreich Ataxia

  Agreement for upper and lower body angular velocity, joint angles and functional range of motion measured concurrently by the single-camera AI markerless system and the gold-standard marker-based motion-capture system.

  Baseline laboratory visit (Week 0)

• Comparison of the digital COA metrics between healthy control and Friedreich ataxia cohort.

  Use of VR game-derived digital metrics (reaction time, movement time, movement accuracy and precision, and AI-derived kinematic metrics such as angular velocity, joint angles and Functional Range of Motion) to compare healthy control and Friedreich ataxia cohort.

  Baseline laboratory visit (Week 0)

• Responsiveness of digital COA metrics over time

  Within-subject change scores and effect sizes for digital metrics, analysed with longitudinal mixed-effects modelling of dCOA trajectories across the home-based phase.

  Weeks 0, 4, 8, and 12

• Patient Global Impression of Change (PGIC)

  Patient Global Impression of Change, 7-point ordinal scale (1 = very much improved to 7 = very much worse; higher = greater perceived worsening), in the FA cohort.

  Week 12

• Platform acceptability and usability

  System Usability Scale (SUS) total score (range 0-100; higher = better usability; ≥70 acceptable, ≥80 excellent).

  Weeks 0, 4, 8, and 12

Secondary Outcomes (6)

• Cortical activation during gaming tasks (fNIRS) - healthy control and Friedreich ataxia cohort.

  Baseline laboratory visit (Week 0)

• Autonomic response during gaming tasks (heart-rate variability) - healthy control and Friedreich ataxia cohort.

  Baseline laboratory visit (Week 0)

• Perceived exertion (Borg CR10) - healthy control and Friedreich ataxia cohort.

  Baseline laboratory visit (Week 0)

• Fatigue (Borg VAS Fatigue) - healthy control and Friedreich ataxia cohort.

  Baseline laboratory visit (Week 0)

• 9-Hole Peg Test completion time - healthy control and Friedreich ataxia cohort.

  Baseline laboratory visit (Week 0)

Study Arms (2)

Friedreich Ataxia

Participants aged 12-50 with genetically confirmed FA (homozygous GAA expansion or compound heterozygous FXN mutations). Complete the laboratory validation session and a 12-week home-based phase with monthly gaming sessions.

Device: Laboratory validation session (VSimulator); Device: Home-based active gaming assessment

Healthy Controls

Participants aged 12-50 without FA, providing reference data for validation. Complete the laboratory validation session only.

Device: Laboratory validation session (VSimulator)

Interventions

Laboratory validation session (VSimulator) DEVICE

Single laboratory visit at the University of Exeter VSimulator in which VR active gaming tasks and single-camera AI-driven markerless motion analysis are performed concurrently with gold-standard marker-based full-body motion capture, functional near-infrared spectroscopy (fNIRS), and continuous heart-rate variability (Delsys ECG sensor). Performed once.

Friedreich Ataxia; Healthy Controls

Home-based active gaming assessment DEVICE

Monthly home-based sessions (Weeks 4, 8, 12) in which participants perform the VR active gaming tasks with concurrent single-camera AI-driven markerless motion analysis via a loaned laptop, with automated remote data capture. No marker-based motion capture, fNIRS, or ECG.

Friedreich Ataxia

Eligibility Criteria

• Age: 12 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Study participants with FA spanning a range of disease severity and functional mobility, recruited across England, together with healthy volunteers of the same age range serving as a comparison group.

You may not qualify if:

• Friedreich ataxia group:
• Aged 11 years or younger, or 51 years or older
• Severe cognitive impairment precluding task comprehension
• Active seizure disorder, or vestibular dysfunction causing nausea with non-immersive VR
• Currently participating in an interventional clinical trial
• Any reason precluding safe participation in moderate-intensity exercise.
• Healthy control group:
• Aged 11 years or younger, or 51 years or older
• Genetically confirmed Friedreich ataxia
• Any reason precluding safe participation in moderate-intensity exercise.

Sponsors & Collaborators

• University of Exeter: lead
• University of Oxford: collaborator

Study Sites (1)

University of Exeter

Exeter, United Kingdom

Location

MeSH Terms

Conditions

Friedreich Ataxia; Rare Diseases

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; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Helen Dawes

  University of Exeter

  PRINCIPAL INVESTIGATOR

• Andrea Nemeth

  University of Oxford

  STUDY DIRECTOR

Central Study Contacts

Talita Dias da Silva Magalhaes

CONTACT

+44 (0) 1392 661000; t.dias.magalhaes@exeter.ac.uk

Kim Chapman

CONTACT

k.chapman3@exeter.ac.uk

Study Design

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

Study Record Dates

• First Submitted: July 17, 2026
• First Posted: July 28, 2026
• Study Start: July 30, 2026
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: July 28, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)