Video-based assessments of activities of daily living: generating real-world evidence in pediatric rare diseases

ABSTRACT

Introduction

Preserving function and independence to perform activities of daily living (ADL) is critical for patients and carers to manage the burden of care and improve quality of life. In children living with rare diseases, video recording ADLs offer the opportunity to collect the patients’ experience in a real-life setting and accurately reflect treatment effectiveness on outcomes that matter to patients and families.

Areas covered

We reviewed the measurement of ADL in pediatric rare diseases and the use of video to develop at-home electronic clinical outcome assessments (eCOA) by leveraging smartphone apps and artificial intelligence-based analysis. We broadly searched PubMed using Boolean combinations of the following MeSH terms ‘Rare Diseases,’ ‘Quality of Life,’ ‘Activities of Daily Living,’ ‘Child,’ ‘Video Recording,’ ‘Outcome Assessment, Healthcare,’ ‘Intellectual disability,’ and ‘Genetic Diseases, Inborn.’ Non-controlled vocabulary was used to include human pose estimation in movement analysis.

Expert opinion

Broad uptake of video eCOA in drug development is linked to the generation of technical and clinical validation evidence to confidently assess a patient’s functional abilities. Software platforms handling video data must align with quality regulations to ensure data integrity, security, and privacy. Regulatory flexibility and optimized validation processes should facilitate video eCOA to support benefit/risk drug assessment.

KEYWORDS:

• Pediatric rare diseases
• video capture
• computer vision analysis
• access to therapies
• electronic clinical outcome assessments (eCOA)
• activities of daily living (ADL)
• performance-based outcome assessments (PerfO)

Article highlights

• Preserving a child’s function and independence to perform activities of daily living (ADL) is a critical aspect for families to manage the burden of care and to improve quality of life.

• Video captured electronic clinical outcome assessments (eCOAs) are a valid proxy of the patient's voice in cases where this is not possible or not sensitive enough through patient-reported outcome (PRO) measures.

• Co-creation of video eCOAs with parents/caregivers and input from key opinion leaders is critical to meet patients’ needs and ensure clinicians, sponsors, and regulators buy-in.

• Video eCOAs provide an objective, detailed visual record of a child’s performance in daily activities, reducing subjective biases in. They allow the detection of meaningful changes when correctly assessed and scored compared to nonspecific tools.

• Verification, usability, and analytical and clinical validation (V3+ evaluation framework) ensure that video eCOAs are fit for purpose, when machine learning techniques are used for automated analysis.

• Sponsors should adhere to quality data regulations and industry standards to maintain quality through the video data lifecycle.

Declaration of interest

E Ferrer Mallol, C Matthews, R Aziza, A Mendoza, N Sahota, S Komarzynski, R Lakshminarayana, and EH Davies are all employees of Aparito Ltd. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper has been funded by Aparito Ltd.