OBJECTIVES

AADC-d is an ultra-rare autosomal recessive neurometabolic disorder leading to hypotonia, movement disorders, developmental delay and autonomic symptoms from birth. Given the lack of healthcare resource utilization (HCRU) information, the aim of this study, part of a global burden of disease project, was to generate French data to feed a cost-effectiveness model to support HTA submission.

METHODS

French AADC-d experts were asked to complete a case-study questionnaire on the HCRU of their AADC patients for the disease management based on information available in the patients’ medical records. This questionnaire was constructed from bibliographic data and clinician inputs, reviewed and validated by 3 French AADC-d specialists. Clinicians completed patient cases prior to a telephone interview, which allowed them to discuss each patient case and to clarify specific points covered by the questionnaire.

RESULTS

Data were collected on 7 patients including patients with mild (2) and severe (5) forms. Overall, patient follow-up is multidisciplinary. All patients are followed by a neurologist. Mild patients are followed by a larger panel of specialists than severe patients but the frequency of consultations is higher in severe patients and they also required more paramedical support. Globally, all recommended medications were used. Medical device use was higher in severe patients (e.g. 80% needed a wheelchair). Gastrostomy (a result of significant impaired feeding) was common in severe patients (60%) but was absent in mild patients. Most of the biochemical tests and medical procedures were performed at diagnosis but not on a routine basis. Finally, hospitalizations were more frequent in severe patients (80% had hospitalizations during previous 12 months with a mean number of 3 hospitalizations).

CONCLUSIONS

These data show the need of a multidisciplinary approach and extensive medical care to manage AADC-d patients. These data will be used for a cost-effectiveness model of an AADC-d treatment to support an HTA submission.