AADC Trust offers knowledge and support on Aromatic Amino Acid Decarboxylase Deficiency (AADCd) to China

On 4th January it was an absolute honour for me to meet our amazing community of AADCd families in China who are struggling to find Professional support to treat their children. Having been contacted by them in August 2018 we worked quickly together to bring about our 1st AADCd Conference to China. Ten AADCd Chinese families attended, and the aim of the meeting was to raise disease awareness in this region. AADCd presents as a very severe, life threatening form, with children struggling to survive beyond 5 years old. The intention was to educate the medical community about the available treatment strategies being used elsewhere in the world, which were, to a greater and lesser degree, supporting all our other 150 known suffering children, spanning 30 countries.

Often existing treatments do not provide major improvements to a child’s complex array of symptoms, particularly motor function, but the chance of survival is significantly increased with good treatment and follow up care by those who understand this Ultra RARE Complex Disease. Collaborating with Professor Piu (Bill) Chan, an expert in Parkinson’s Disease from Beijing and Kevin Huang of Chinese Organisation of Rare Disorders (CORD) worked very well and even though Aromatic Amino Acid Decarboxylase deficiency (AADCd) was not included in the first published China RARE Disease Index, published in 2018, we are confident it will be included when republished in 2020. Also, we hope, by working with Professor Chan and other Professionals we may bring Gene Therapy to this growing population soon.

The AADC Trust invested in translation into Mandarin its AADCd disease animation and, thanks to Dr Wang-Tso Lee, we translated the Consensus Guideline for the Diagnosis and Treatment of AADCd into Chinese  to offer documented support to Professionals when treating our children. 

 

 

Click here to access

the Chinese Consensus

Guidelines or contact

enquiries@aadcresearch.org

for a PDF version by email

HUGE thank you to our AADCd experts, Professor Simon Heales (UK), Professor Mita Bertolidi (ITALY), Dr Toni Pearson (USA) and Dr Wang Tso Lee (TAIWAN) who agreed to travel during their own seasonal holidays to help this desperate community and to offer their expert knowledge on AADCd. We are hopeful for some great collaborations and know that following our visit more children will be diagnosed, subsequently treated and more importantly, will be offered a chance of surviving living with AADCd, whilst waiting for the ultimate cure.

Dr Toni Pearson delivered an exciting presentation on AAV2-hAADC Gene Therapy which offered HOPE to these families. As soon as we can deliver on this treatment/trial, to the children in China, we will then be offering the real opportunity of a life-changing transformation, as we attempt to reproduce the amazing results already being seen in AADCd children currently taking part in trials at UCSF in the USA.

We were also thankful for local presentations by Dr BingBing (for Dr Yi Wang) and to the bravery of one of our families who presented their own story living with AADCd in China.

AADC China Conference

The Conference was reported on two Chinese TV channels, click on the video to watch the highlights of this event.

If you are a family diagnosed with AADCd in China join the 'AADC family in China' group on WeChat

This Conference was only possible with the generous sponsorship provided by Columbus Children’s Foundation. Thank you, Javier Garcier and Krystof Bankiewicz for providing these funds and for the important connections offered, we are grateful for your commitment to our children and look forward to witnessing and collaborating on the delivery of AADCd Gene Therapy treatment to our Worldwide community.

 

A special mention to our own staff members; Julie Ramsay & Lifan Su who worked hard in the background to make this event possible in the short timeframe we had to prepare, especially with Christmas and New Year interrupting these plans. Lifan travelled with me to China and went above and beyond to make sure this event ran smoothly, offering translation support to the AADC Trust and to ensuring families were happy and relaxed in this unusual setting they found themselves in. Thank you Lifan and Jijing (CORD) for providing presenters with valuable technical support and negotiating all our needs to the hotel.

 

 

Thank you to Kewen and her team of the Hilton, Tianhe, Guangzhou for making this a very special occasion and for treating our families with immense respect and delivering on everything required to make this an exceptional and unique experience. 

Most memorable comment for me was by Professor Chan who shared ‘’I have never been to a meeting where families have been present, only rooms full of doctors… its humbling, excellent, well done” - Lisa Flint

We look forward to working more with our families and Professionals in China and the WORLD beyond and to continue our collaboration with CORD

Thank you to all those who attended and participated in this momentous occasion.

Lisa Flint | Founder & Managing Director | The AADC Research Trust (2006)

Conference Speakers...

Professor Piu Chan - China
Introduction to RARE Neurotransmitter Diseases in China and Difficulties in Diagnosing and Managing Them
Professor Mita Bertoldi - Italy
Structure Function Relationship of AADC Variants causing AADCd in China/Asia
Dr Toni Pearson - USA
AADCd Natural History Study & AAV2-hAADC Gene Therapy Trials (Target Area VTA & SNpc) - Possible Future Treatment for AADCd Children in Chine/Asia
The Mission of The Children's Columbus Foundation - Promo Video
Lisa Flint - UK
Welcome and Introduction from the Founder & Managing Director of The AADC Research Trust

Professor Simon Heales - UK

 
Biochemical Mechanisms and Biomarkers used in AADCd and other related Neurotransmitter Diseases (Including: CSF Analysis, Plasma Enzyme Activity, 3OMD biomarker, Prolactin Levels, Urine Analysis including Urinary Sulphatoxymelatonin)
Dr Wang-Tso Lee - Taiwan
Complex Clinical Management of AADCd in Taiwan/China using Conventional Medicines/Possible Update on Introduction of Probiotics PS128
Kevin Huang - China
The Contribution of the Patient Organization in the Development of the RARE Disease Area - CORD's Experience

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