Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe

References

• Montioli R, Borri Voltattorni C. Aromatic amino acid decarboxylase deficiency: the added value of biochemistry. Int J Mol Sci. 2021;22(6):3146.
   PubMed Web of Science ®Google Scholar
• Hyland K, Reott M. Estimated prevalence of aromatic L-amino acid decarboxylase (AADC) deficiency in at-risk population (poster). Chicago, IL: Annual Meeting of the American Society of Gene and Cell Therapy; 2018.
   Google Scholar
• Whitehead N, Schu M, Erickson S, et al. Estimated prevalence of aromatic L-amino acid decarboxylase (AADC) deficiency in the United States, European Union and Japan (poster). Lausanne, Switzerland: Annual Congress of the European Society for Gene and Cell Therapy; 2018.
   Google Scholar
• Bergkvist M, Stephens C, Schilling T, et al. Aromatic L-amino acid decarboxylase deficiency - a systematic review. J Inherit Metab Dis. 2021;44(S1):1–461.
   PubMed Web of Science ®Google Scholar
• Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-Amino Acid Decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017; Jan 1812(1):12.
   PubMed Web of Science ®Google Scholar
• Pearson TS, Gilbert L, Opladen T, et al. AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis. 2020;43(5):1121–1130. Sep
   PubMed Web of Science ®Google Scholar
• Brennenstuhl H, Kohlmuller D, Gramer G, et al. High throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. J Inherit Metab Dis. 2020;43(3):602–610.
   PubMed Web of Science ®Google Scholar
• Kuseyri Hubschmann O, Horvath G, Cortes-Saladelafont E, et al. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. Nat Commun. 2021;12(1):5529.
   PubMed Web of Science ®Google Scholar
• Hanbury A, Smith AB, Buesch K. Deriving vignettes for the rare disease AADC deficiency using parent, caregiver and clinician interviews to evaluate the impact on health-related quality of life. Patient Relat Outcome Meas. 2021;12:1–12.
   PubMed Web of Science ®Google Scholar
• Chien YH, Lee NC, Tseng SH, et al. Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. Lancet Child Adolesc Health. 2017;1(4):265–273.
   PubMedGoogle Scholar
• Hwu WL, Muramatsu S, Tseng SH, et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med. 2012;4(134):134ra61.
   PubMed Web of Science ®Google Scholar
• Kojima K, Nakajima T, Taga N, et al. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. Brain. 2019;142(2):322–333.
   PubMed Web of Science ®Google Scholar
• Pearson TS, Gupta N, San Sebastian W, et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. Nat Commun. 2021;12(1):4251.
   PubMed Web of Science ®Google Scholar
• Hwu PW, Kiening K, Anselm I, et al. Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021;13(9):e14712.
   PubMed Web of Science ®Google Scholar
• Ng J, Heales SJ, Kurian MA. Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders. Paediatr Drugs. 2014;16(4):275–291.
   PubMed Web of Science ®Google Scholar
• Himmelreich N, Montioli R, Bertoldi M, et al. Aromatic amino acid decarboxylase deficiency: molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127(1):12–22.
   PubMed Web of Science ®Google Scholar
• Pearson TS, Pons R, Ghaoui R, et al. Genetic mimics of cerebral palsy. Mov Disord. 2019;34(5):625–636.
   PubMed Web of Science ®Google Scholar
• Malone DC, Dean R, Arjunji R, et al. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484.
   PubMedGoogle Scholar
• Skrobanski H, Williams K, Werner C, et al. The impact of caring for an individual with Aromatic L-Amino Acid Decarboxylase (AADC) deficiency: a qualitative study and the development of a conceptual model. Curr Med Res Opin. 2021;37(10):1821–1828.
   PubMed Web of Science ®Google Scholar
• Williams K, Skrobanski H, Werner C, et al. Symptoms and impact of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model. Curr Med Res Opin. 2021;37(8):1353–1361.
   PubMed Web of Science ®Google Scholar
• Buesch K, Williams K, Skrobanski H, et al. Caring for an individual with aromatic L-Amino Acid Decarboxylase (AADC) deficiency: analysis of reported time for practical and emotional care and paid/unpaid help. Value Health. 2021;24:S206.
   PubMed Web of Science ®Google Scholar
• Acaster S, Perard R, Chauhan D, et al. A forgotten aspect of the NICE reference case: an observational study of the health related quality of life impact on caregivers of people with multiple sclerosis. BMC Health Serv Res. 2013;13:346.
   PubMed Web of Science ®Google Scholar
• Pozzilli CP, L, Mainero C, Tomassini V, et al. Relationship between emotional distress in caregivers and health status in persons with multiple sclerosis. Mult Scler. 2004;10(4):442–446.
   PubMed Web of Science ®Google Scholar
• Song J, Floyd FJ, Seltzer MM, et al. Long-term effects of child death on parents' health related quality of life: a dyadic analysis. Fam Relat. 2010;59(3):269–282.
   PubMed Web of Science ®Google Scholar
• Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64–71.
   PubMed Web of Science ®Google Scholar