Inaugural AADCd WORLD
Conference - 2011
The Trust's 1st International AADCd Conference in 2011 was a landmark event in the history of Aromatic Amino Acid Decarboxylase (AADC) Deficency. It brought together many of the world’s foremost experts on AADC deficiency. The conference was attended by AADCd patients and their families as well as medical professionals and research scientists. The event was held at the Selsdon Park Hotel in the United Kingdom on 6th and 7thOctober 2011.
Day 1
Day 2
The unifying theme of the opening session was the search for peripheral biomarkers of AADC deficiency including salivary melatonin and blood 3-O-methyldopa as well as an explanation of why urinary dopamine levels can be paradoxically elevated in AADC deficiency.
The second session focused on understanding the mechanisms underlying the disorder. This included investigations examining the detail of how individual mutations impact on the AADCd protein and AADCd Research Trust sponsored work to examine the effect of substrate accumulation in AADC deficiency.
The session was closed with a proposal to examine the neuropsychiatric manifestations that arise in patients. Session three focused on the emerging novel treatment approach of gene therapy. This featured back to back presentations by Dr Paul Hwu and Dr Krystof Bankiewicz who are both spearheading gene therapy clinical trials for AADC deficiency in Taiwan and the USA respectively. This gave AADCd families the opportunity to learn more about these trials, the surgical methods involved and the potential outcomes for patients.
The final session of the first day covered aspects of dopamine agonist treatment including the differences between different agonists, the side-effects, the complexities of measuring drug effect and the potential advantages of transdermal rotigotine patches.
The day was concluded with presentations on the development of the dopamine system, laboratory analysis informing treatment decision and a proposal for a new whole organism model of AADC deficiency.
The second day began with a series of clinical presentations of AADC deficiency by leading clinicians from USA, Italy, Spain, France, Japan and Israel. These presentations highlighted both the similarities and the differences between patients and sadly the inadequacy of treatment for the majority of patients.
The second session provided the most fundamental view of AADC deficiency as experienced every day by parents of children with AADC deficiency. Five parents from Belgium, UK, Estonia, USA and Australia each gave an account of their experiences. Each story was both humbling and insightful ranging from the earliest signs of the disorder through the sometimes difficult road to diagnosis to the daily care they deliver.
Following on from this was an expert panel discussion aimed at consensus forming around diagnostic laboratory practice, clinical interventions and research priorities. Perhaps the overarching theme of this session was standardisation with a commitment from many clinicians present to begin working towards a set of clinical guidelines for AADC deficiency.
The final session gave AADCd families the opportunity to discuss any aspect of the disease with the assembled clinical and scientific experts. Questions were asked about gene therapy, drug treatments and symptoms.
