Burden of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in Italian Patients from Symptomatology and Motor Development Perspective
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 deficiency is an ultrarare genetic disorder affecting monoamine production, and causing a mix of non-specific motor, cognitive and autonomic symptoms that often complicates diagnosis. Patient characteristics in the literature are poorly described and geographically biased. The aim of this study was to describe the burden of AADC deficiency in Italy focusing on patient symptoms and developmental motor milestones. METHODS A questionnaire covering the following aspects: patient characteristics, disease features and health resource use was developed based in literature research and insights from international AADC deficiency specialists. Four Italian neurologists were invited to complete the questionnaire based on information from clinical records and their own knowledge of AADC deficiency patients they care/had cared for. RESULTS 11 patient cases were reported (mean follow up of 5.36 years): 7 were able to walk unassisted, 2 sit unassisted and 2 patients had no motor function/head control only. All patients were alive at survey time and mean age was 21.55 years (range: 3-40); one was no longer followed up. 45% of patients were diagnosed less than 2 years from first symptoms (57% of patients able to walk unassisted had nevertheless a diagnosis delay >19 years). Patients able to walk unassisted had generally a wider mix of symptoms and patients with no motor function/head control experienced them more frequently. All patients presented movement disorders and gastrointestinal symptoms, while 91% had CNS symptoms. Specifically common symptoms were fatigability (82%), diarrhea (82%), insomnia (82%), delayed cognitive (82%) and speech development (73%), orthostatic hypotension (73%) and dyskinesia (73%). All patients without motor function/head control also presented dystonia, hypotonia, hypertonia and excessive drooling. CONCLUSIONS To our best knowledge this study describes for the first time patient characteristics associated to the burden of AADC deficiency in Italian patients, highlighting the unmet needs of a widely unknown population.
Conference/Value in Health Info
2021-11, ISPOR Europe 2021, Copenhagen, Denmark
Value in Health, Volume 24, Issue 12, S2 (December 2021)
Code
POSC8
Topic
Clinical Outcomes, Methodological & Statistical Research, Real World Data & Information Systems
Topic Subcategory
Clinician Reported Outcomes, Health & Insurance Records Systems, Survey Methods
Disease
Neurological Disorders, Pediatrics, Rare and Orphan Diseases