Healthcare Resource Consumption Associated with Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) in Italy
Author(s)
Fernández-Cortés F1, Saberian S2, Patel P2, Rowan P2, Buesch K3, Beitia Ortiz de Zarate I4
1PTC Therapeutics, Madrid, Spain, 2OPEN HEALTH, MARLOWE, UK, 3PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland, 4PTC Therapeutics, Paris, 75, France
Presentation Documents
OBJECTIVES AADC-d is an ultrarare condition affecting monoamine neurotransmitters and characterized by non-specific motor, cognitive and autonomic symptoms. To our knowledge there is no published data on healthcare resource use (HCRU) associated with AADC-d in the Italian healthcare system. METHODS A questionnaire based on literature and expert insights was developed to collect information on AADC-d related HCRU in 3 European countries. Four Italian neurologists were interviewed and reported resource use based on patient records. RESULTS Data was reported on 11 patients (7 able to walk unassisted -group A-, 2 able to sit unassisted-group B-and 2 with no motor function/head control only -group C-). All patients were followed by neurologists, but only 73% by general practitioners or other specialists (pediatricians 45%; gastroenterologists 36%). Psychiatrist visits were reported for patients of groups A and C (71%/100%), and pulmonologist and endocrinologist for group B (50%). All groups required physiotherapy (64%). Other paramedical support varied: neuro-psychomotor therapy (55%, except patients of group B), occupational therapy (100% of group C), and nurses, speech therapists and dietitians (only group A). Drug treatments included vitamin B6 (82%) and L-dopa (27%) for all, dopamine agonists (86%/100%) and MAO inhibitors (71%/50%) in patients of group A and C respectively, and sleep/mood disorders drugs (50%) in group B. Surgeries were reported only for patients in group A. Medical devices (including verticalizers, and wheelchairs) were only reported in groups B and C. Prolactin (91%), blood (82%), urine (82%) and iron level (73%) tests and ECG (82%), were common to all groups; groups A and B had a wider mix of medical procedures. Overall, 73% of patients had 2.25 (±0.71) hospitalizations (>1 night) per year. CONCLUSIONS AADC-d management in Italy is multidisciplinary and resource utilization depends greatly on disease symptoms. This data may support HTA submissions of a new treatment for AADC-d.
Conference/Value in Health Info
2021-11, ISPOR Europe 2021, Copenhagen, Denmark
Value in Health, Volume 24, Issue 12, S2 (December 2021)
Code
POSC69
Topic
Clinical Outcomes, Economic Evaluation, Real World Data & Information Systems
Topic Subcategory
Clinician Reported Outcomes, Health & Insurance Records Systems
Disease
Neurological Disorders, Pediatrics, Rare and Orphan Diseases