All publications

This case study published in Movement Disorders describes the outcomes of 2 patients with aromatic L-amino acid decarboxylase (AADC) deficiency treated with intraputaminal gene therapy

This research article, published in Patient Related Outcome Measures, provides results from a discrete choice experiment to determine health utility values for AADC deficiency, carried out using a sample of the general population in France

This research article, published in Orphanet Journal of Rare Diseases, provides insight into the experience of patients with AADC deficiency across 5 different motor function milestone health states

This original study article, published in the Current Medical Research and Opinion journal outlines the first qualitative study to understand the symptoms of AADC deficiency and its impact on individuals’ health-related quality of life

This original study article, published in the Journal of Chromatography B, outlines a study to establish a reliable method to assess both 5-hydroxytryptophan (5-HTP) and 3-O-methyldopa (3-OMD) in dried blood spot (DBS) analysis through ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) technology, for the biochemical diagnosis of AADC deficiency

This research article, published in Molecular Therapy, presents the results of long-term follow-up from the 3 eladocagene exuparvovec gene therapy trials for aromatic L-amino acid decarboxylase (AADC) deficiency

This perspectives article, published in Current Gene Therapy, describes the low risk of immune response to adeno-associated virus serotype 2 (AAV2) vector-mediated gene therapy to the brain, with support from clinical trial data in aromatic L-amino acid decarboxylase (AADC) deficiency

This research article, published in Journal of Patient-Reported Outcomes, describes the 5-stage development of vignettes describing aromatic L-amino acid decarboxylase (AADC), for use in a subsequent health-state utility elicitation study

This research article, published in Molecular Genetics and Metabolism Reports, evaluates and validates 3-O-methyldopa (3-OMD) as a biomarker for aromatic L-amino acid decarboxylase (AADC) deficiency

This research article, published in Journal of Patient-Reported Outcome Measures, presents an approach specific to France that evaluates the impact of AADC deficiency on health-related quality of life

This case study, published in the Journal of Pediatric Epilepsy, presents a patient with genetically-confirmed aromatic L-amino acid decarboxylase (AADC) deficiency presenting with developmental epileptic encephalopathy (DEE)

This research article, published in Journal of Patient-Reported Outcomes, presents a novel approach to evaluating the impact of AADC deficiency on health-related quality of life

This article, published in EMBO Molecular Medicine, describes the role of the putamen as an established target site for gene therapy in treating AADC deficiency and Parkinson’s disease 

This case report, published in BMC Neurology, describes the clinical presentation and diagnosis of 2 patients with AADC deficiency with gene variants not previously associated with the disorder

This original article, published in the Pediatric Neurology journal, outlines the prevalence of AADC deficiency in an at-risk population and discusses the implications on the understanding of the epidemiology and genetics of AADC deficiency

This review article, published in the Molecular Genetics and Metabolism journal, outlines hallmark symptoms of AADC deficiency and discusses recommended diagnostic tests, current strategies for management, and potential new treatment options under investigation for AADC deficiency