iNTD Database Development

As the number of patients diagnosed with AADC deficiency has grown it has become clear that the disorder presents with a complex range of symptoms and that these are variable between each patient. The route to diagnosis has not been straightforward for many patients and although a range of treatment options are available the response of different patients to treatment is highly variable. To improve our clinical understanding of AADC deficiency and other related disorders the International Working Group on Neurotransmitter Related Disorders (iNTD) has been established.

The iNTD is an international consortium of specialist clinical metabolic centres across the world. For AADC deficiency the aim of the group is to produce evidence-based clinical guidelines that will help to standardize treatment and will aid clinicians in optimizing patient care and disease outcomes. To achieve this aim the iNTD will collect and evaluate evidence from the published literature on patients with AADC deficiency. In addition a new database of AADC patients will be established, incorporating after parental consent the data from the JAKE database (http://www.intd-registry.org/). Within the new registry information on clinical symptoms, biochemical test results, treatments and outcomes will be assessed in a prospective way (i.e. at least one visit per year will be documented). No additional test or blood samples are need.  All patient data will be anonymous and will only be used after informed consent is given by the patient or family.

The clinical guidelines will be produced using a well defined methodology developed by the Scottish Intercollegiate Guidelines Network (SIGN). This process will involve systematically reviewing available evidence of drug treatment and other therapies used in AADC deficiency. Both positive and negative outcomes of treatment will be assessed as well as evidence of drug dosage. The resulting guidelines will be published in an open-access journal allowing them to be freely accessible.

The AADC Research Trust awarded 15,000 EUR to Dr Thomas Opladen at the University Children’s Hospital Heidelberg towards the costs of establishing and operating the iNTD.

If you would like more information on the iNTD please follow this link to their website:

http://www.intd-online.org/

If you would like more information on the iNTD registry please follow this link to their website:

http://www.intd-registry.org/

More information on the SIGN methodology can be found here:

http://www.sign.ac.uk/guidelines/fulltext/50/index.html

What the Founder & Managing Director, Lisa Flint, says about this project…iNTD

It is a pleasure and honour to be working alongside the world’s leading medical and scientific experts on neurotransmitter disorders on this vital research. A database, comprising essential disease and patient information, is one of the most important components to good, sound, and well-funded medical and scientific research. 

This is a project I have personally advocated since setting up the Trust in 2006 and believe that, although eternally grateful to those brilliant scientists, who have continuously unravelled the complex nature of some of these newly discovered diseases, this is merely the starting point.