Набор скоро начнётся NCT07731971

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

— Наблюдательное Friedreich Ataxia

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Laboratory validation session (VSimulator), Home-based active gaming assessment.
Кому может быть актуально: Состояния в реестре: Friedreich Ataxia. Базовые параметры: 12 лет — 50 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Великобритания
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Fusion of Therapeutic AI Active Gaming With Motion Capture to Create a Novel Digital Clinical Outcome Assessment (dCOA) in Friedreich Ataxia

Обзор

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.

Подробное описание

Design and rationale STEP-OUT FA is an observational, prospective cohort study (STROBE-compliant) developing and validating a digital clinical outcome assessment (dCOA) for Friedreich ataxia. It addresses a well-documented limitation in FA therapeutic development: existing semi-quantitative clinical outcome assessments are affected by floor and ceiling effects, limited responsiveness across disease stages, and poor patient-perceived relevance, which have contributed to repeated failures of drug trials to meet primary endpoints. The study evaluates whether motor-performance metrics captured during gamified, semi-immersive virtual-reality (VR) tasks, combined with markerless AI motion analysis, can serve as reliable, valid, and responsive outcome measures.

Measurement platform The platform is delivered through a standard laptop and integrates three components: (1) FA-adaptable VR gamified tasks (e.g., ball catching, target reaching) with adjustable difficulty; (2) automated extraction of gaming-performance metrics; and (3) a single-camera, patented AI-driven markerless motion-capture system for 3D pose reconstruction (DigiTherapix Ltd), used to derive biomechanical/kinematic metrics. The gaming environment is provided via the MoveHero platform (University of São Paulo).

Laboratory validation (healthy controls and FA participants) Validation is conducted at the University of Exeter VSimulator facility against a gold-standard, marker-based full-body motion-capture reference. During a single laboratory visit (\~2 hours), participants complete a familiarisation period followed by a \~20-minute session of four movement-based gaming tasks. Concurrent signals are recorded throughout: full-body optical motion capture (reflective markers on shoulders, elbows, knees, ankles, forehead), continuous heart-rate variability via a Delsys ECG sensor (baseline, task, recovery), and functional near-infrared spectroscopy (fNIRS) over the forehead to index cortical activation. Perceived exertion and fatigue (Borg RPE and Borg VAS Fatigue) are collected after each task, and a short semi-structured interview captures usability and acceptability feedback (audio-recorded for later transcription). FA participants additionally complete clinical characterisation at baseline.

Home-based longitudinal phase (FA participants only) To evaluate test-retest reliability and responsiveness, FA participants enter a 12-week home phase with monthly self-administered or remotely supported gaming sessions (\~20-30 minutes) at Weeks 4, 8, and 12, each accompanied by a brief telehealth check-in with a physiotherapist to confirm continued consent, provide support, and monitor adverse events. Data are captured automatically and remotely. A remote follow-up assessment at Week 12 repeats clinical and patient-reported measures and includes a short interview.

Analytic approach Concurrent validity is assessed via correlations between digital metrics and established clinical scales; reliability via intraclass correlation coefficients across repeated sessions; and responsiveness via within-subject change and effect sizes, with longitudinal mixed-effects modelling of dCOA trajectories across the home-phase time points. Analyses characterise which individual or composite metrics (gaming-derived versus biomechanical) show optimal measurement properties and best discriminate disease severity. As an exploratory feasibility and validation study establishing proof of concept and psychometric properties, no formal power calculation was performed; the sample size was justified on precision for reliability estimation and on precedent from rare-disease dCOA validation studies.

Collaborators and data governance The AI motion-analysis platform is provided by DigiTherapix Ltd (UK) and the gaming platform by the University of São Paulo (Brazil); formal sub-contractor and data-sharing agreements govern intellectual property and data governance. No personally identifiable participant data are transferred outside the UK. Oxford University Hospitals acts as a Participant Identification Centre only.

Вмешательства

Устройство Laboratory validation session (VSimulator)
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.
Устройство Home-based active gaming assessment
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.

Первичные конечные точки

Concurrent validity of game-based movement performance against the mFARS - Friedreich ataxia cohort. [Срок оценки: Baseline laboratory visit (Week 0)]
Criterion validity of AI markerless motion capture versus marker-based motion capture - Healthy Controls and Friedreich Ataxia [Срок оценки: Baseline laboratory visit (Week 0)]
Comparison of the digital COA metrics between healthy control and Friedreich ataxia cohort. [Срок оценки: Baseline laboratory visit (Week 0)]
Responsiveness of digital COA metrics over time [Срок оценки: Weeks 0, 4, 8, and 12]
Patient Global Impression of Change (PGIC) [Срок оценки: Week 12]
Platform acceptability and usability [Срок оценки: Weeks 0, 4, 8, and 12]

Вторичные конечные точки (6)

Cortical activation during gaming tasks (fNIRS) - healthy control and Friedreich ataxia cohort. [Срок оценки: Baseline laboratory visit (Week 0)]
Autonomic response during gaming tasks (heart-rate variability) - healthy control and Friedreich ataxia cohort. [Срок оценки: Baseline laboratory visit (Week 0)]
Perceived exertion (Borg CR10) - healthy control and Friedreich ataxia cohort. [Срок оценки: Baseline laboratory visit (Week 0)]
Fatigue (Borg VAS Fatigue) - healthy control and Friedreich ataxia cohort. [Срок оценки: Baseline laboratory visit (Week 0)]
9-Hole Peg Test completion time - healthy control and Friedreich ataxia cohort. [Срок оценки: Baseline laboratory visit (Week 0)]
Gait quality: proportion of good steps (Heel2Toe sensor) [Срок оценки: Baseline laboratory visit (Week 0)]

Критерии участия

Friedreich ataxia group:

Aged 12 to 50 years
Genetically confirmed Friedreich ataxia
Able to sit or stand independently for 5 minutes
Able to provide informed consent (or assent with parental consent if under 16 years)
Stable medication regimen (no changes in the past 4 weeks)

Healthy control group:

Aged 12 to 50 years
No history of genetically confirmed Friedreich ataxia
Able to sit or stand independently for 5 minutes
Able to provide informed consent (or assent with parental consent if under 16 years)

Критерии исключения

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
No reliable internet connection (where a digital inclusion pack cannot resolve this)
Any reason precluding safe participation in moderate-intensity exercise.

Healthy control group: