Symptoms and Impacts of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Among Individuals with Different Levels of Motor Function

Author(s)

Williams K1, Skrobanski H2, Buesch K3, Acaster S2
1Acaster Lloyd Consulting Ltd., 84 Theobalds Road, LON, UK, 2Acaster Lloyd Consulting Ltd., London, LON, UK, 3PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland

OBJECTIVES: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare highly morbid neurological disorder associated with a range of symptoms and functional impairments. This study aimed to describe the experience of AADC deficiency across five different motor milestone health states (no motor function, head control, sitting without support, standing/stepping when fully supported, walking with minimal support).

METHODS: Qualitative interviews were conducted with caregivers of individuals with AADC deficiency in the United States and Europe. An interview guide was developed with input from clinical experts and caregivers, and explored the symptoms and impacts of AADC deficiency. Interviews were conducted by telephone and were recorded and transcribed. Data were analysed using thematic analysis and the symptoms and impacts were qualitatively compared across health states.

RESULTS: Fourteen caregivers took part, including two parents to the same individual. Data were available on 13 individuals with AADC deficiency aged 1-15 years, including six in the ‘no motor function’ health state, one in ‘sitting unsupported’, one in ‘standing/stepping when fully supported’ and five in ‘walking with minimal support’. The results highlight a substantial impact of AADC deficiency, even among those who were able to walk with minimal support. Overall, those with better motor function also had better functional hand use, communication skills, ability to eat and perform other activities independently, and interact with their peers. The burden of caring was high across all health states, but caregivers of individuals in the walking health state were better able to participate in social and leisure activities.

CONCLUSIONS: All individuals with AADC deficiency have substantial impairment, but those with less severe symptoms were better able to perform their daily, leisure and social activities. Treatments which may improve motor function have the potential to improve other aspects of the lives of individuals affected by AADC deficiency and their caregivers.

Conference/Value in Health Info

2022-05, ISPOR 2022, Washington, DC, USA

Value in Health, Volume 25, Issue 6, S1 (June 2022)

Code

PCR92

Topic

Patient-Centered Research, Study Approaches

Topic Subcategory

Patient-reported Outcomes & Quality of Life Outcomes, Surveys & Expert Panels

Disease

Rare and Orphan Diseases

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