Neuronopathic Gaucher's News
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The Type 3 Gaucher Disease European Family Conference held on 26-27 November 2004 in the UK was an exciting and informative 1½ days, writes Tanya Collin-Histed, Type 3 representative of the UK Gauchers Association and now Executive Director. A host of speakers highlighted the current and forthcoming challenges faced by sufferers. The audience included families from the UK, Italy, Germany, Serbia, Sweden, Jordan and New Zealand.
On Friday evening 26 November at the Hilton Hotel Leicester, after Jeremy Manuel and Susan Lewis from the Gauchers Association welcomed guests, Dr Ashok Vellodi opened the Type 3 Gaucher Disease European Family Conference. He discussed the history of neuronopathic Gaucher Disease and the challenges that lay ahead which include crossing the blood-brain barrier; modifier genes; understanding enzyme replacement therapy and how it works; and future studies in animal models. Dr Vellodi heads the Gauchers Centre at Great Ormond Street Hospital for Children.
The morning session began with Dr David Begley, Co-Director of the Blood-Brain Barrier Research Group at Kings College London, who described the blood-brain barrierand outlined the challenge it presents in getting therapies to cross it in order to be effective in conditions that affect the central nervous system. Dr Begley highlighted the fact that the blood-brain barrier of those affected by lysosomal storage disorders such as neuronopathic Gaucher Disease may be damaged and this also provides a challenge.
Dr Tony Futerman, who runs a research group at the Weizmann Institute of Science in Israel, continued the session on the brain by stating that it is important to understand how and why the brain is affected in order for new therapies to be developed. He said that calcium is a key player in the function of nerve cells and his laboratory has discovered that the function of calcium is abnormal in patients with Type 2 and Type 3 Gaucher Disease. Finally he challenged drug companies to look at modifying current enzyme replacement therapy so that it can get into the central nervous system across the blood-brain barrier.
Elin Pope-Davis outlined her role as Clinical Trial Nurse on the current OGT 918 (Zavesca) trial at Great Ormond Street Hospital involving 13 families. She highlighted the challenges and the importance of supporting families.
Next the audience was taken on a special journey by Jo, the mother of five year old Mia who has Type 3 Gaucher Disease. Jo shared the ups and downs of her family's experience of diagnosis, an uncertain future, a clinical trial, a battle with education and coming to terms with living with a child who has neuronopathic Gaucher disease.
After lunch Dr Fran Platt, a researcher at the Oxford Glyco-Biology Institute at the University of Oxford, gave an excellent guide to understanding how substrate reduction therapy works. She described the findings of her studies into two types of substrate reduction therapy, the glucose analogue OGT 918 (otherwise known as miglustat or Zavesca) and the galactose analogue OGT 923 which has yet to be taken into a clinical trial. Finally she talked about her work combining substrate reduction therapy with anti-inflammatory drugs to improve the life expectancy of mouse models.
Pauline Campbell described the hearing pathway in patients and stressed the importance of developing objective measurements to evaluate their neurological involvement. Ms Campbell is a Paediatric Audiologist at Derriford Hospital in Plymouth and has worked with children diagnosed with neuronopathic Gaucher Disease since 1998. She discussed how auditory processing can be affected and stressed the importance to understand the implications it can have on education.
Dr Chris Harris gave an overview of the eye movement problems seen in neuronopathic Gaucher disease and how they can affect the patient. He is a professor of neuroscience at the University of Plymouth and previously worked at Great Ormond Street Hospital.
Following the coffee break Fernanda Torquati, President of the Italian patient association and a founding member of the European Gaucher Alliance (EGA), explained the work of the EGA and its achievement in supporting children and adults in countries throughout Europe.
Naheed, the mother of Sophia and Irma who both have neuronopathic Gaucher Disease gave a moving presentation about the difficult journey she has made over the past 17 years since Sophia was born. She shared her experience of bringing up her children and Sophia's battle for independence.
I would like to thank the speakers for sharing their work with the families; the UK Gauchers Association and the European Gaucher Alliance for funding the conference; Actelion Pharmaceuticals which kindly gave an educational grant to Great Ormond Street Hospital to support the speakers' costs; and Great Ormond Street Hospital Trust for printing the brochures. I would also like to thank the volunteers for their time and support in looking after the children which enabled parents to relax, and my husband Mark who is my tower of strength, my right arm and was of great assistance on the technical side of the Conference. I would like to thank Dr Ashok Vellodi who has given his support, time and encouragement to deliver this conference and finally all families who have travelled here from the UK and abroad. Without the families this conference would not have happened.
The objective of the conference was to get families together to support each other, to share their knowledge and experiences, and to bring doctors and families together to learn from each other. This has been achieved and I thank everyone for making that possible.
Neuronopathic Gaucher's News
Gauchers News Contents
Source: Gauchers News May 2005.
Copyright © Gauchers Association 2005.