Abstract
BackgroundMetachromatic leukodystrophy (MLD) is a rare disease with three forms based on the age at onset of signs and symptoms. The objective of this study was to develop a caregiver-reported clinical outcome assessment that measures impairments in physical functioning related to activities of daily living in patients with juvenile MLD.MethodsA targeted literature review and exploration of proprietary research, including a conceptual model, were conducted. Concept elicitation interviews were conducted to elicit additional concepts related to impairments in patients’ physical functioning with caregivers of five individuals with juvenile MLD. Based on the research review and concept elicitation interviews, the conceptual model was updated and the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities (IMPA) scale draft items were created. Cognitive debriefing interviews were conducted with six additional caregivers to finalize the conceptual model and to refine the IMPA scale.ResultsInitially, 17 potentially important concepts were identified and addressed in the draft IMPA scale. Following the cognitive debriefing interviews, 15 activities/items remained: brush teeth, comb/brush hair, bathe/shower, dress self, eat, drink, use pencil/crayon, sit upright, use toilet, get on/off toilet, walk, use stairs, get in/out of bed, get in/out of chair/wheelchair, and get in/out of vehicle. Items that did not uniquely contribute to the purpose of the instrument were removed.ConclusionThe IMPA scale, developed according to regulatory standards, provides a means of detecting changes in activities of daily living in individuals with juvenile MLD and can hence be used in future studies to measure benefits of therapeutic interventions.
Highlights
Metachromatic leukodystrophy (MLD) is a rare disease with three forms based on the age at onset of signs and symptoms
The objective of this study was to develop a new caregiver-reported clinical outcome assessment (COA) of impairments in physical functioning related to activities of daily living (ADLs) in patients with juvenile MLD
Signs and symptoms associated with the development of juvenile MLD, their progression, and the various impacts of these physical and non-physical clinical features supported the development of the final IMPA scale and contributed to content of the conceptual disease model
Summary
Metachromatic leukodystrophy (MLD) is a rare disease with three forms based on the age at onset of signs and symptoms. Metachromatic leukodystrophy (MLD) is a genetic disorder caused by the deficiency of arylsulfatase A This deficiency results in the accumulation of sulfatide, which leads to progressive demyelination in the central and peripheral nervous systems, causing various neurological symptoms and early death [1]. Studies estimate the late-infantile MLD at approximately 30–50% of the MLD cases, followed by the juvenile subtype at approximately 30–40% [3,4,5]. In a study of 23 patients with late-infantile MLD and 36 patients with juvenile MLD, gait disturbances and abnormal movement patterns were the most frequent first signs in both disease subtypes [7]. In a natural history study that Groeschel and colleagues [8] conducted in 33 children with late-infantile MLD and 35 patients with juvenile MLD, there was more heterogeneity in the juvenile
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