Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disea
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ORIGINAL ARTICLE
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient‑Centered Disease Concept Model Tom Willgoss1 · Daiana Cassater2 · Siobhan Connor1 · Michelle L. Krishnan2 · Meghan T. Miller2 · Carla Dias‑Barbosa3 · Dawn Phillips4 · Julie McCormack5 · Lynne M. Bird6 · Rebecca D. Burdine7 · Sharon Claridge8 · Terry Jo Bichell9
© The Author(s) 2020
Abstract Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. Despite the considerable impact on individuals and caregivers, no disease-modifying treatments are available. To support holistic clinical management and the development of AS-specific outcome measures for clinical studies, we conducted primary and secondary research identifying the impact of symptoms on individuals with AS and their unmet need. This qualitative research adopted a rigorous step-wise approach, aggregating information from published literature, then evaluating it via disease concept elicitation interviews with clinical experts and caregivers. We found that the AS-defining concepts most relevant for treatment included: impaired expressive communication, seizures, maladaptive behavior, cognitive impairment, motor function difficulties, sleep disturbance, and limited self-care abilities. We highlight the relevance of age in experiencing these key AS concepts, and the difference between the perceptions of clinicians and caregivers towards the syndrome. Finally, we outline the impact of AS on individuals, caregivers, and families. Keywords Angelman syndrome · Qualitative research · Patient-centered · Outcome assessment · Clinical endpoint
Introduction
* Tom Willgoss [email protected] 1
Roche Products Limited, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City AL7 1TW, UK
2
Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland
3
Evidera, Hammersmith, London, UK
4
Division of Physical Therapy, School of Medicine, University of North Carolina, Chapel Hill, NC, USA
5
Evidera, Patient-Centered Research, Bethesda, MD, USA
6
Department of Pediatrics, University of California San Diego, San Diego, CA, USA
7
Department of Molecular Biology, Princeton University, Princeton, NJ, USA
8
Foundation for Angelman Syndrome Research (FAST), Downers Grove, IL, USA
9
Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, Nashville, TN, USA
Angelman syndrome (AS) is a neurodevelopmental disorder resulting from deficient expression or function of the maternally expressed UBE3A gene [1]. This can be due to one of four mechanisms: chromosome 15q11q13 deletion encompassing the UBE3A gene, intragenic UBE3A mutation, paternal uniparental disomy (UPD) for chromosome 15, or an imprinting defect (ID) [2]. Population estimates report the prevalence of AS to be between 1 in 10,000 and 1 in 20,000 [3–5]. The developmental trajectory of individuals with AS begins to deviate from that of the typically developing population in the first months of
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