AADC deficiency is a very rare disease and patients are spread widely across the world. Because of this very few clinicians get the opportunity to diagnose and care for more than a handful of patients. It is often by looking at greater numbers of patients together that new insights into the disease begin to emerge. Professor Nenad Blau and Dr Leticia Brun established an international collaborative project to create a clinical database of patients with AADC deficiency. They collected clinical data from the diagnosis and treatment of patients with no additional examination or testing required and only after informed consent was granted. Data was obtained from 78 patients with AADC deficiency and included laboratory tests, symptoms, treatment regimes and follow-up. This information was collated into the JAKE database, the international database of patients with AADC deficiency. The data was also analysed and formed the basis of a published article in the academic journal Neurology.
By comparing the patients together it was possible to demonstrate that by far the most common symptoms in AADC deficiency are muscle hypotonia and oculogyric crises. Other symptoms were more variable between patients. The analysis of CSF neurotransmitters was described as essential for the diagnosis of AADC deficiency. All patients that were reported had a characteristic pattern of low levels of dopamine and serotonin metabolites as well as high levels of 3-O-methyldopa and 5-hydroxytryptophan. Treatments were also documented including dopamine agonists, monoamine oxidase inhibitors, anticholinergics and vitamin B6. The range of dosages for these medications as well as recommended starting dosages and a potential initial treatment protocol were also detailed. Unfortunately very few patients were reported to have a good response to treatment and this highlights further the need for new treatment strategies for AADC deficiency.
A new database of patients with AADC deficiency is currently under development as part of the iNTD project. This will incorporate after parental consent the data from the JAKE database (http://www.intd-registry.org/). Please see our AADC & iNTD database development page for more information:
Work from this project was published in the following journal article:
Brun L., Ngu L. H., Keng W. T., Ch'Ng G. S., Choy Y. S., Hwu W. L., Lee W. T., Willemsen M. A. A. P., Verbeek M. M., Wassenberg T., Regal L., Orcesi S., Tonduti D., Accorsi P., Testard H., Abdenur J. E., Tay S., Allen G. F., Heales S., Kern I., Kato M., Burlina A., Manegold C., Hoffmann G. F. and Blau N. (2010) Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology75, 64-71.
What the Founder & Managing Director, Lisa Flint, says about this project...JAKEdb
From the very outset it was paramount that we collected and collated as much available data about all known aspects of 'AADC' and record it into a new, accessible medical and scientific database as soon as we possibly could. As funds for research were limited, we wanted an easier option for medics and scientists to spend every precious moment they had researching this rare 'parkinsonism' disorder, rather than spending time-consuming hours, and the Trust's funds, gathering essential basic information from all corners of the globe. At one of our early Medical & Scientific meetings it was suggested by Professor Nenad Blau that he should employ the help of an MD student to work on developing this important database - and so Leticia Brun joined his team; and the rest, as they say, is history!
My family and I were extremely honoured to discover that this database would be referred to as the JAKEdb, honouring our very special son. In 2001 Jake became the first UK child to be diagnosed with Aromatic Amino Acid Decarboxylase (AADC) deficiency, and the 17th known patient in the world. Jake is one of the most successfully treated AADC patients amongst this rare group who is entirely dependent on a daily cocktail of medication to help him perform easy everyday tasks.
We would like to take this opportunity to thank Prof Nenad Blau and his team 'a million' for their continuing interest in our disease, and say how very much we are looking forward to collaborating together on the iNTD Database project due for completion in 2017.