Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers.

Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, neurodegenerative disorder with no disease-modifying treatments. There is a dearth of information in the literature about the patient and caregiver experience living with DRPLA.

Objectives: This study aimed to (1) understand symptoms experienced by adult- and juvenile-onset DRPLA populations and their impact on daily life and (2) explore patient and caregiver treatment goals and clinical trial participation preferences.

Home-based video assessment of ease of movement for patients with Duchenne: Interviews with physical therapists to select movement tasks.

Background And Purpose: Patients with Duchenne muscular dystrophy (DMD) change their movement patterns to compensate for muscle weakness. The Duchenne Video Assessment (DVA) measures ease of movement through evaluation of compensatory movements. The DVA directs caregivers to video record patients performing home-based movement tasks using a mobile application, and DVA-certified physical therapists evaluate the videos using scorecards with prespecified compensatory movement criteria.

Development of Duchenne Video Assessment scorecards to evaluate ease of movement among those with Duchenne muscular dystrophy.

Background: Patients with Duchenne muscular dystrophy (DMD) adopt compensatory movement patterns as muscles weaken. The Duchenne Video Assessment (DVA) measures patient ease of movement through identification of compensatory movement patterns. The DVA directs caregivers to video record patients performing specific movement tasks at home using a secure mobile application, and DVA-certified physical therapists (PTs) score the videos using scorecards with prespecified compensatory movement criteria.

Reliability and construct validity of the Duchenne Video Assessment.

Introduction: The Duchenne Video Assessment (DVA) assesses quality of movement as an indication of Duchenne muscular dystrophy (DMD) disease severity. Caregivers video record patients performing home-based movement tasks using a mobile application, and physical therapists (PTs) rate the videos using scorecards with prespecified compensatory movement criteria. Reliability and construct validity of the DVA were tested using video and Pediatric Outcomes Data Collection Instrument (PODCI) data from patients with DMD and healthy controls from a separate study.

Adapting traditional content validation methods to fit purpose: an example with a novel video assessment and training materials in Duchenne muscular dystrophy (DMD).

Purpose: The Duchenne muscular dystrophy (DMD) Video Assessment requires a caregiver to record six videos of their ambulatory child performing physical activities using a smartphone application (app). Innovative assessments that combine a performance measure, technology, and an observer require new approaches to content validation studies. This study presents a novel approach to establish the feasibility and content validity of the Video Assessment and usability of the app.

The Case for the Use of Patient and Caregiver Perception of Change Assessments in Rare Disease Clinical Trials: A Methodologic Overview.

Introduction: The traditional model of evaluating treatments based primarily on primary outcome measures has stumbled in its application to rare disease. Rare disease clinical trials face the methodological challenges of small, heterogeneous patient populations and relatively few validated, disease-specific outcome measures. Incorporating qualitative research into rare disease clinical trials may help sponsors, regulators, payers, and prescribers to better understand the real-world and patient-specific impact of a potential therapy.