Abstract Details

Title Shaping the Future of Neurological Wilson’s Disease Assessment and Monitoring with Novel Digital Biomarkers

Topic Movement Disorders

Presentation(s) P10 - Poster Session 10 (11:45 AM-12:45 PM)

Poster/Presentation
Number 3-012

Objective Defining new digital biomarkers (dBMKs) allowing a comprehensive assessment and monitoring of neurological Wilson’s disease (NWD) to bridge the existing practice gaps.

Background Neurological features of Wilson’s disease include dysarthria, tremor, gait, balance and postural control impairments. Patients often experience concomitant manifestations that may change over time, hampering their assessment and management. Accurate assessment of the phenotypic presentation of NWD and treatment response is crucial for appropriate care management. Current evaluation using the Unified Wilson's Disease Rating Scale is primarily qualitative, time-consuming and exhibits several limitations necessitating objective measurements of patients' neurological functional status. Other neurological scales inadequately capture the broad-spectrum of NWD symptoms.

Design/Methods A double-diamond methodology was used to narrow down the key health concepts to be addressed in NWD and identify their related candidate dBMKs, captured using smartphone’s sensors. To support this approach, an extensive literature review and 19 research sessions with Wilson’s disease experts were conducted.

Results Dysarthria, tremor and gait & balance impairments were identified as key health concepts to objectively track and monitor; 50 candidate dBMKs were specified accordingly. Breaking down dysarthria into six dimensions, namely: vocal quality, pneumo-phonatory control, articulatory precision, prosody, hypernasality and intelligibility, seemed critical to pinpoint possible predominant subtypes. DBMKs were specified to characterize each dimension.
DBMKs were also identified to objectively typify action, rest and postural tremor.
Finally, dBMKs were defined for the comprehensive and objective characterization of gait and balance impairments (parkinsonian/ dystonic/ ataxic gait, falls, balance weakness and impaired postural control).

Conclusions Initial results showed that using dBMKs for accurate phenotypic classification and longitudinal monitoring of NWD, is both feasible and of medical interest. Clinical validation is needed to establish dBMKs as the future gold standards for NWD assessment and monitoring, overcoming neurological scales limitations.

Authors/Disclosures
Clarissa Gorin, Other (Ad Scientiam) PRESENTER	Dr. Gorin has received personal compensation for serving as an employee of Ad Scientiam.
Michaela Pernon (Hôpital Fondation Adolphe de Rothschild)	No disclosure on file
Chloé Laurencin	No disclosure on file
Grégoire Lafay (Ad Scientiam)	No disclosure on file
Loic Carment (Ad Scientiam)	Loic Carment has received personal compensation for serving as an employee of Ad Scientiam.
Kenza Drareni (Ad Scientiam)	Kenza Drareni has nothing to disclose.
Clémence Faulcon (Ad Scientiam)	No disclosure on file
Arthur Feyt	No disclosure on file
Saad Zinai	Saad Zinai has received personal compensation for serving as an employee of AD Scientiam. Saad Zinai has stock in Ad Scientiam.
Emilie Guilpain (Ad Scientiam)	No disclosure on file
Aurelia Poujois (Hôpital Fondation Adolphe de Rothschild)	Aurelia Poujois has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Orphalan. Aurelia Poujois has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Univar.

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