OBJECTIVES: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, Healthcare resource utilization (HCRU) information for this rare disease is scarce but required for economic evaluations. Therefore, the aim of this multi-country study was to generate data on the HCRU of patients with AADC deficiency.

METHODS: A case study questionnaire was developed based on data published in literature and clinician input capturing information about individuals with AADC deficiency, disease symptoms and HCRU related to the management of the disease. The questionnaires were completed by experts with experience in treating patients with AADC deficiency based on information available in the patients’ medical records prior to a telephone interview.

RESULTS: Eleven clinicians involved in the management of patients with AADC deficiency participated in the interviews (6 from France, 4 from Italy and 1 from Spain) providing information on 20 patients (10 were able to stand/walk with assistance, 2 were able to sit, and 8 had no motor function/head control). The median (IQR) duration of follow-up per patient at the time of the survey was 5.00 (2.00 to 7.50) years. At the last follow-up, 19 (95%) patients had a neurologist involved in their medical management. Paramedical support was mainly provided by physiotherapists (75% of all patients [60% in patients able to stand/walk with assistance, 50% in patients able to sit, and 100% in patient with no motor function/head control]). All recommended medications were used. Medical device use was higher in patients with no motor function/head control (i.e. 75% needed a manual and/or electric wheelchair). Hospitalizations were frequent with a mean (SD) number of hospitalisations since diagnosis of 19.66 (46.03) due to uncontrollable movements.

CONCLUSIONS: These data show the high medical care and HCRU to manage patients with AADC deficiency.