Medical & Scientific Advisory Panel - AADC Meetings Summary

The AADC Research Trust was established in 2006 with the aim of raising AADC deficiency awareness globally, funding dedicated AADC deficiency research and supporting children and families affected by AADC deficiency. The Trust appointed a board of trustees, created a website and began fundraising. In order to help guide and advise the work of the Trust a Medical and Scientific Advisory Panel was created and included many of the foremost experts on this rare disease. The meetings of the Medical and Scientific Advisory Panel are outlined here:

1st Meeting of AADC Medical and Scientific Advisory Committee June 2007, London

The key priorities for the Trust discussed at this meeting included:

  • Funding dedicated Research and Equipment for AADC deficiency this included funding a PhD, exploring the possible use of stem cells and improving treatment strategies for the disorder
  • Developing a database of patients with AADC deficiency
  • Improving understanding of the symptoms of AADC deficiency and in particular oculogyric crises as well as assessing the current success and availability of treatments
  • Providing or facilitating realistic access to a local medical expert
  • Increasing the number of testing laboratories and simplifying testing protocols including looking for an alternative to the lumbar puncture because of potential dangers of anaesthesia in AADC children
  • Correlating AADC genetic mutations with the severity of disease symptoms

2nd Meeting of AADC Medical and Scientific Advisory Committee February 2008, London

The key priorities for the Trust discussed at this meeting included:

  • The development of new models of AADC deficiency that can be used for research
  • Possible new biomarkers that could be used to detect the disorder
  • Newborn Screening for AADC deficiency
  • Neuroimaging of patients with AADC deficiency and the potential for demyelination due to increased methylation of L-dopa
  • The clinical and scientific follow-up of patients diagnosed with AADC deficiency
  • Investigating the differences and similarities between oculogyric crises in AADC deficiency and seizures
  • In-vitro fertilisation and pre-natal genetic diagnosis by CVS and Amniocentesis

Outcomes of the discussion indicated that regulatory approval for newborn screening would only be possible if a treatment was discovered that dramatically improves the outcome for patients with AADC deficiency.

3rd Meeting of AADC Medical and Scientific Advisory Committee April 2009, London

Updates and proposed AADC deficiency research studies were presented to the committee including:

  • PhD Project on AADC deficiency
  • Development of the international database of AADC deficiency patients
  • Development of a model of AADC deficiency in Taiwan
  • Renal Dopamine Synthesis - Potential for different treatments
  • Further areas of discussion included:
  • The potential of induced pluripotent stem cells (iPSC) for AADC deficiency research
  • Possible neurological effects of AADC carrier status. One sibling of a patient had symptoms of fatigue during sustained exercise and was found to have low serotonin and folate in CSF.
  • Establishing a diagnostic laboratory neurotransmitter service in Malaysia to improve local diagnostic services and training a student in biochemical diagnosis of neurotransmitters at the Neurometabolic Unit in London
  • Following the meeting the trust director pursued the possibility of AADC deficiency becoming part of a research project to produce iPSCs from patient cells at Harvard University. Unfortunately, AADC deficiency was not included in this study as 11 other diseases with higher numbers of patients were selected. However the director continued to advocate this as an important research priority.

1st AADC Research Trust International AADC Conference, October 2011, London

The first international AADC conference was attended by the majority of members of the Medical and Scientific Advisory Panel. The conference provided the opportunity for AADC patients and families, healthcare professionals and scientific researchers to meet and discuss all aspects of AADC deficiency. The conference in 2011 produced many important discussions and innovative ideas for the future of clinical care and research of AADC deficiency. In particular this conference began the drive towards standardisation of clinical practice and diagnostic methodology. A brief summary of the conference is available here: http://www.aadcresearch.org/page/aadc-international-conference-2011/. A full summary of all presentations and discussions of the 2011 conference is available to registered members of the AADC Research Trust website. To register please click here: http://www.aadcresearch.org/page/registration/

2nd AADC Research Trust International AADC Conference, November 2014, London

The second international AADC conference was also attended by the majority of members of the Medical and Scientific Advisory Panel. This second meeting of healthcare professionals, research scientists and AADC families enabled important discussions on the future of AADC deficiency to take place. This conference as well as the previous conference in 2011 gave families caring for AADC children the opportunity to share their experiences with each other and with medical and scientific professionals. In both conferences the parents made major contributions and generated innovative ideas about AADC deficiency and were acknowledged by the professionals as the true experts in the care of patients with AADC deficiency. A brief summary of the 2014 conference is available here: http://www.aadcresearch.org/page/aadc-international-2014-conference/

A full summary of all presentations and discussions of the 2014 conference is available to registered members of the AADC Research Trust website. To register please click here: http://www.aadcresearch.org/page/registration/

Meeting of AADC Medical and Scientific Advisory Committee November 2014, London

This short meeting was conducted as part of the 2014 International AADC Conference. Key areas of discussion included:

  • Invitation of new members to join the Panel
  • Proposed research on molecular insights into AADC deficiency
  • The possible incorporation of an international charity group for paediatric neurotransmitter disorders
  • Potential sources of funding beyond charity fundraising