The AADC Research Trust International AADC Conference in 2014 blended fundamental basic science and cutting edge clinical studies with key case reports and AADC family presentations. The conference was held at Selsdon Park Hotel in the United Kingdom on 21st and 22nd November 2014. The conference was attended by AADC patients and their families, research scientists and healthcare professionals.
The conference began with a session encompassing laboratory diagnosis of AADC deficiency in France and the UK. Important and contrasting case reports were presented including a very mild case where the main symptom was hypoglycaemia and a more severe case from Switzerland where new technology is helping patients to become more independent and interact with their environment. The session also included an important research presentation examining models of AADC deficiency and changes to development.
The second session of presentations included details of drug induced dyskinesias in children with paediatric neurotransmitter disorders such as AADC deficiency. The session also included a presentation on the potential of a clinical protocol for the care of patients with AADC deficiency and the difficulties of achieving this. The final talk of the session highlighted the potential of metabolomics to change the way AADC deficiency and other metabolic diseases are diagnosed in the laboratory.
The final session of the day began with an introduction to the International Working Group on Neurotransmitter Related Disorders (iNTD) who are generating a new patient database and clinical guidelines for AADC deficiency. Case reports from children with AADC deficiency in Poland were discussed and these highlighted the need for greater clinical awareness of AADC deficiency. Fundamental scientific research was also presented, with investigations of the direct effect of pathogenic mutations on the AADC protein and developing a neuronal model of AADC deficiency using patient skin cells.
The second day began with presentations by AADC families. These presentations highlighted the often tortuous path to getting a diagnosis and the many challenges that living with AADC deficiency can bring. The perseverance of the families to getting a diagnosis and seeking new treatment for their child is an inspirational reminder of the need to continue improving our understanding, diagnosis and treatment of AADC deficiency. This session also included a poetry recital from Romanja Mast, who has AADC deficiency and writes poems to explain the condition.
The second session of the day focused on the gene therapy clinical trial due to begin in the USA. This session included explanations of the science behind the study and the results of previous clinical trials for other conditions. There were presentations on the surgical procedures that will be used to deliver the gene to the target brain region. This included details from one trial site at the NIH in Bethesda, USA and a second potential site in the UK. Finally details of the selection criteria and time scales for the trial were explained in detail. The final session of the day was given over to round table discussions where AADC families were able to ask questions of the assembled scientists and clinicians.
A full detailed summary of the conference is available on request.