The 3rd International AADC Conference marked the 10 year anniversary of the AADC Research Trust. Over the last decade the Trust has been at the forefront of funding and promoting research into AADC deficiency. Fundamental to this mission has been the forming of a community of AADC families, medical professionals and scientists from across the world. This conference once again brought this community together to discuss the latest developments, the challenges and the hopes for the children living with this devastating disease.
The conference began with an introduction to AADC deficiency from different viewpoints. Firstly the biochemistry of AADC deficiency was introduced as well as how the disorder is seen in the laboratory. Then clinical experience of the disorder was described including treatment with currently available drugs. Next two AADC families presented their experiences of AADC deficiency and gave us an essential insight into the disorder. They described the difficult route to diagnosis and the daily challenges for their children and family.
The second session focused on new initiatives to share knowledge and experience of AADC deficiency and other related disorders. The International Working Group on Neurotransmitter Related Disorders (iNTD) has created a registry of patients with neurotransmitter disorders including AADC deficiency. The aim of this group is to compare the clinical picture of patients and their response to treatment in order to improve clinical understanding. Following on from this a proposal for a European training network on neurotransmitter disorders including AADC deficiency was presented. This network would allow young scientists to train in neurotransmitter disorders in different specialist centres across Europe.
The conference then moved on to discussions of novel innovations from the laboratory. This included the testing of potential markers in blood and urine that could have a role in monitoring dopamine and serotonin levels in the brain. It is possible that these markers could be used in the future to help optimise the treatment in AADC patients. Key research was also presented examining the direct effect of different disease causing mutations on the function of the AADC protein. The session concluded with a description of an exciting new approach to studying AADC deficiency using patient skin cells that will be converted into stem cells and then grown into nerve cells. This may provide a powerful tool for investigating AADC deficiency and new treatment options. The day concluded with the launch of a new animation video produced by the AADC Research Trust to help explain AADC deficiency and how some of the drug treatments work.
The second day began with a new proposed clinical guideline for AADC deficiency. This guideline is formulated from current evidence and aims to standardise the diagnosis and clinical care of AADC deficiency. Next, a new study was introduced with the aim of documenting the progression of AADC deficiency in individual children. This study will need the help of AADC families to complete questionnaires on their child. The session concluded with a presentation from the Bobath Centre on their experience of physiotherapy and occupational therapy in children with AADC deficiency and the positive benefits that these therapies can provide. Following on from this two more AADC families described their experiences. These presentations acknowledged the challenges but also highlighted the positive times and especially the important role of siblings in supporting and caring for children with AADC deficiency.
The conference then moved on to discuss gene therapy for AADC deficiency. The first set of presentations reported on the ongoing Taiwanese trial of gene therapy. Firstly we heard from Agilis Biotherapeutics that kindly supported the conference. Agilis is a US company that developed the AADC gene therapy vector that is now licenced for use in the trial in Taiwan. The results of the Taiwan gene therapy trial in four patients was then presented as well as a description of the surgery required for treatment. After this the latest news of the US gene therapy trial was described including details of studies conducted to test the safety of the techniques and gain US FDA approval. Importantly, it was announced that the trial is ready to begin recruiting patients this year. The final part of the day was dedicated to round table discussions aimed at giving AADC families the opportunity to ask questions of the Medical and Scientific attendees.