NEURONOPATHIC GAUCHER'S DISEASE


Here are the articles which relate specifically to Neuronopathic Gaucher Disease (Type 2 and Type 3). If you can't find what you want, try the search facility. Do also look at the main contents pages where there is additional infomation which is as relevent to Chronic Neuronopathic Gaucher Disease (Type 3) patients as it is to Type 1 patients.

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Opinions expressed here are not necessarily those of the Gauchers Association.


Research Update on Neurological Aspects of Gaucher Disease
Dr Ashock Vellodi gives an update on current research and publications
(December 2007).

Gauchers News Main Contents Page
Most of the information relating to Type 1 Gaucher Disease is also relevant to Type 3 patients, so do look at the other pages too.


Children's Gaucher Research Fund

Other Relevant Web Sites

E Mail Discussion List

Gauchers Association Aims and Disclaimer

Main contents. Contenido en español (Spanish translations).


Alphabetical Index

Not listed under other categories.

The Blood-Brain Barrier
Dr David Begley is Co-Director of the Blood-Brain Barrier Research Group at Kings College London and has researched this subject since 1980. He spoke about the importance of the blood-brain barrier with regard to neuronopathic Gaucher Disease at the European Family Conference in November 2004. (May 2005).

The calcium connection and problems of enzyme replacement therapy with the blood-brain barrier
Dr Tony Futerman, Professor of Biological Chemistry at the Weizmann Institute in Israel spoke about the abnormal physiology (function) of calcium in the brain in neuronopathic Gaucher disease and the problem of enzyme replacement therapy crossing the blood-brain barrier. (May 2005).

The calcium connection with Neuronopathic Gaucher Disease
Dr Tony Futerman is Associate Professor in the Dept of Biological Chemistry at the Weizmann Institute of Science in Israel and is currently carrying out research into the calcium connection with Type 2 and Type 3 Gaucher disease. This article is based on one printed in Helping Hands, the Newsletter of the US Children's Gaucher Research Fund. (March 2002).

Cerezyme to be licensed for Type 3
Genzyme Therapeutics announced in June 2003 that the European Committee for Proprietary Medicinal Products (CPMP) has issued a positive opinion on expanding the indication for Cerezyme to include Type 3 Gauchers disease. Genzyme hopes to receive formal approval of the label expansion by the European Commission later this year. (October 2003).

Children and Gaucher Disease

Conference Reports

European Task Force for the Management of Neuronopathic Gaucher Disease: update An update of european guidelines for treatment by Dr Ashok Vellodi of Great Ormand Street Hospital, London.
(December 2006).

European Task Force for the Management of Neuronopathic Gaucher Disease
Elin Davies-Pope the Clinical Trial Nurse at Great Ormond Street Hospital, reports on her work with the European Task Force for the Management of Neuronopathic Gauchers Disease. (December 2005).

Eye Movements
Dr Chris Harris is an Ophthalmologist at Great Ormond Street Children's Hospital which has been in the forefront of pioneering work in the area of eye movements in Neuronopathic Gaucher disease. (February 2000).

Hearing in Neuronopathic Gaucher Disease
Hearing is a complicated process explained Pauline Campbell, Paediatric Audiologist at Derriford Hospital, Plymouth. Ms Campbell has tested children diagnosed with neuro-nopathic Gaucher Disease since 1998. (May 2005).

Hearing and Audiology Processes
Pauline Campbell is an Audiological Scientist at Great Ormond Street Children's Hospital. She explained the possible problems with hearing processing in children with Type 3 Gaucher disease. (February 2000).

Management of Neuronopathic Gaucher disease: A European Consensus
A paper on The Management of Neuronopathic Gaucher Disease was published in the Journal of Inherited Metabolic Disease in June 2001. The consensus was developed by the Neuronopathic Gaucher Disease Task Force, a group of doctors from the European Working Group on Gaucher Disease who specialise in this form of the disease. The following is an edited version of the article prepared by Dr Ashok Vellodi and Tanya Collin-Histed with a link to the original article.(March 2002).

Neuronopathic Gaucher Disease Fund
The Gauchers Association has agreed to establish a new account where specified donations dedicated to NGD will be held. (August 2000).

Neuronopathic Gaucher Disease in the USA
Dr Raphael Schiffmann is specifically interested in the clinical and biochemical effects of enzyme replacement therapy on the systemic and neurological involvement in patients with Type 2 and Type 3 Gaucher disease. He is Chief of Clinical Investigations and Therapeutics Section in the Developmental and Metabolic Neurology Branch of the National Institute of Neurological Disorders and Stroke, USA. Dr Schiffmann spoke about his work at the US Gaucher Conference on 3 October 1999 in Arlington, Virginia . (February 2000).

New Treatments Under Development

Neurological Symptoms and Therapy
Dr Bruno Bembi reports on Type 2 and Type 3 patients. (September 1996).

The Rationale for Substrate Reduction Therapy in Neuronopathic Gauchers Disease
Enzyme replacement therapy is highly effective in the treatment of Type 1 Gauchers disease but it is unlikely to cross the blood-brain barrier to help Neuronopathic Gauchers disease. Bone marrow transplantation is more effective but risky. Therefore a different approach is required, explained Dr Ashok Vellodi, who runs the paediatric Gauchers Centre at Great Ormond Street Hospital, London at the UK Conference on 30 November 2003. (March 2004).

Type 2 Gaucher Disease
Explanation and description. (Revised 1997).

Awards Granted for research in Type 2 Gaucher Disease
In memory of Ellie Carter and Emily Downes.
(July 2007).

Type 2 Gaucher Disease Research Project Announcement
A fund of £40,000 has been raised in memory of Ellie Carter who died aged seven months in February 2004 for research. (December 2006).

Type 3 Gaucher Disease
A report from Sweden. (March 1996).

Twinkle Twinkle Little Star - Zoe
A Case History of Type 2 Gaucher Disease.


Children and Gaucher Disease

Zavesca Trial for Type 3 halted
(December 2006). The trial failed to show an effect on the primary end point of eye movement abnormalities.

Lysosomal Diseases and the brain
Report of a two day conference by the Children's Gaucher Fund in partnership with the National Institute of Health held in Sacramento, USA in June 2006. (December 2006).

The Girls' Day Out in London
When a child has a chronic condition like neuronopathic Gauchers disease, the challenges can be a real struggle, writes Tanya Collin-Histed. (June 2006).

Mia's Story: She has Type 3 Gaucher disease
Mia was diagnosed with Gaucher disease Type 3 soon after her first birthday. Her mother Jo told their story. (May 2005).

Demands on families with Neuronopathic Gaucher Disease
Elin Davies-Pope is clinical research nurse at Great Ormond Street Hospital and is responsible for the Zavesca trial with Type 3 children. She spoke about the demands on families during the trial at the Family Conference. (May 2005).

When and How to Tell Your Children: Psychologists speak to Type 3 Families
When and how parents should tell their child and their other children about the child's diagnosed condition was discussed by two paediatric psychologists at Great Ormond Street Hospital for Children. (October 2004).

Ellie Carter: an angel born 6 July 2003 with Type 2 Gaucher Disease
Ellie died on 9 February 2004 aged seven months. Her parents, Jill and Ian, have raised over £10,000 in her name. (October 2004).

Tanya's Story: Coping with a Child with Chronic Neuronopathic (Type 3) Gauchers Disease
Tanya Collin-Histed is the Gauchers Association's representive for neuronopathic Gauchers disease and was presented with the Alan Gordon Memorial Award for her work and achievements in helping families with this form of the disease. She described her own personal story of challenges and opportunities at our 5th Conference in November 2001 . (March 2002).

Working with Families and Professionals
Dr Ed Wraith, who is in charge of the Gaucher Centre at the Royal Manchester Children's Hospital, spoke on working with families and professionals . (February 2000).

Working with Children and Siblings
(February 2000).

How Type 3 Gaucher Disease Affected My Family
Ian gave a personal account of his daughter Emily who has Type 3 Gauchers disease and how it has affected his family. (February 2000).

Educational Challenges and Issues
Christine Lavery from the Society for Mucopolysaccharide Diseases (MPS) talked about the challenges and issues regarding Special Educational Needs. (February 2000).

Ownership of Your Child's Care
Dr Ashok Vellodi completed the conference programme with a talk on ownership of your child's care. (February 2000).

Children and Gaucher Disease
Dr Ed Wraith is Consultant Paediatrician at the Royal Manchester Children's Hospital and is in charge of the Gaucher's Clinic there. The following is a summary of his talk at the Conference on 25 April 1999, specific comments on Type 3 here. (July 1999).

Children and Gaucher Disease
Dr Ashok Vellodi has wide experience in lysosomal disorders. He looks after 16 children with Gaucher disease at Great Ormond Street Hospital for Children where he is a full-time Paediatric Consultant. This article is a summary of Dr Vellodi's talk at the Association's Third Conference in February 1997.

Living with Type 3 Gaucher Disease: Maddie and Tanya's Story
Maddie was born on 22 September 1994 and until she was 15 months old she did not even suffer a cold. But in December 1995 everything was to change. Her mother Tanya tells her story. (November 1997).

Tomas's Story: He Can Now Skate and Play Football(March 1996).

Twinkle Twinkle Little Star - Zoe
A Case History of Type 2 Gaucher Disease.

Children's Gaucher Research Fund for Types 2 and 3 Gauchers Disease (July 1999)..


Conference Reports

Neuronopathic Gaucher Disease Day
Report of the proceedings of the first day of the Association's conference held on 20 January 2007.
(July 2007).

Type 3 Gaucher Disease European Family Conference, November 2004
The Type 3 Gaucher Disease European Family Conference held on 26-27 November 2004 in the UK was an exciting and informative 1½ days. 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. (May 2005).

Where have we been and where are we going?
Neuronopathic Gaucher disease continues to be a challenge despite the advances made, explained Dr Ashok Vellodi at the opening of the Type 3 Gaucher Disease European Family Conference. Dr Vellodi, who is pictured below, runs the paediatric Gaucher Centre at Great Ormond Street Hospital in London. (May 2005).

Neuronopathic Gauchers Disease
Neuronopathic Gauchers disease (Types 2 and 3) was discussed at two overseas meetings: the European Working Group for Gauchers Disease in Jerusalem on 6-9 September 2000 and at the National Gaucher Foundation Conference held in Arlington, Virginia on 12-13 November 2000. (March 2001).

1999 Family Conference on Neuronopathic Gaucher Disease
The weekend of 6-7 November 1999 saw the first ever Neuronopathic (Types 2 and 3) Gaucher Disease Family Conference in Northampton, UK. Ten families 31 adults and 23 children, gathered for an informal weekend to listen to a range of speakers from the Royal Manchester Children's Hospital, Great Ormond Street Children's Hospital, the Society for Mucopolysaccharide Diseases and Oxford GylcoSciences. (February 2000).

An Overview of Neuronopathic Gaucher Disease
Dr Ashok Vellodi, who is in charge of the Gaucher Clinic at Great Ormond Steet Children's Hospital, opened the Neuronopathic Gaucher's Disease Family Conference with an over view of Neuronopathic Gaucher disease. (February 2000).

Management of Neuronopathic Gaucher Disease: A European Consensus
(February 2000).

Type 3 Sessions
The three Type 3 sessions at the March 1998 National Workshop were attended by a small number of families and medical staff. (July 1998).

Family Day in London
On Saturday 5 September 1998 Tanya Collin and her 4 year old daughter Madeline who has Type 3 Gaucher's disease, travelled to London to a Family Day for all the children and their families who attend the Gaucher's Clinic at Great Ormond Street Children's Hospital. The day had been organised to provide an opportunity for families to get together to meet in an informal atmosphere and talk about living with Gaucher's Disease. Tanya is the Type 3 Representative for the Gauchers Association. (January 1999)


New Treatments

Demands on families with Neuronopathic Gaucher Disease
Elin Davies-Pope is clinical research nurse at Great Ormond Street Hospital and is responsible for the Zavesca trial with Type 3 children. She spoke about the demands on families during the trial at the Family Conference. (May 2005).

Substrate Reduction Therapy Study for Patients with Neuronopathic Gauchers Disease
Elin Davies-Pope, Clinical Research Nurse at Great Ormond Street Hospital for Children in London, gives an update on the substrate reduction therapy study for patients with neuronopathic Gauchers disease using Zavesca. (March 2004).

The Rationale for Substrate Reduction Therapy in Neuronopathic Gauchers Disease
Enzyme replacement therapy is highly effective in the treatment of Type 1 Gauchers disease but it is unlikely to cross the blood-brain barrier to help Neuronopathic Gauchers disease. Bone marrow transplantation is more effective but risky. Therefore a different approach is required, explained Dr Ashok Vellodi, who runs the paediatric Gauchers Centre at Great Ormond Street Hospital, London at the UK Conference on 30 November 2003. (October 2003).

Zavesca Trial for Type 3 Gauchers Disease Starts in the UK
This July saw the start of a screening process of children with Type 3 Gauchers disease at Great Ormond Street Hospital, London, England to decide if they were suitable to enter the Zavesca (OGT 918) trial. (October 2003).

OGT 918 Study in Patients with Neuronopathic Gaucher Disease
Following the OGT 918 trial for adult type 1 patients with Gauchers disease, a research study for patients with neuronopathic Gauchers disease will soon start at Great Ormond Street Hospital, London in collaboration with the National Institutes of Health in the USA. (April 2003).

Vevesca (OGT 918): US Study To Start at NYU Gaucher Clinic
The first clinical study in the USA with Vevesca for Type 1 Gauchers disease is to begin shortly at the New York University School of Medicine. (September 2001).

OGT 918 Drug Trial for Neuronopathic Gauchers Disease
A clinical trial of OGT 918 in neuronopathic Gauchers disease (Types 2 and 3) is under discussion between Dr Roscoe Brady, Dr Raphael Schiffmann of the National Institutes of Health (NIH) in Washington DC, USA, and Oxford GlycoSciences, the company that produces the drug.
(March 2001).

First Clinical Trial Results for OGT 918 for Gaucher Disease
The results of a multinational clinical trial of a new drug OGT 918 (also known as substrate balance therapy) which could possibly be used instead of or together with enzyme replacement therapy were published in the medical journal, The Lancet on 29 April 2000. (August 2000).

OGT 918 Drug Trial for Neuronopathic Gauchers Disease
A clinical trial of OGT 918 in neuronopathic Gauchers disease (Types 2 and 3) is under discussion between Dr Roscoe Brady, Dr Raphael Schiffmann of the National Institutes of Health (NIH) in Washington DC, USA, and Oxford GlycoSciences, the company that produces the drug.(August 2000).

Substrate Balance Therapy
Irene Gow, Clinical Operations Manager of Oxford GlycoSciences (OGS), gave a talk on substrate balance (deprivation) therapy, a potential new way to treat Gauchers disease, at the Neuronopathic Gauchers Disease Family Conference on 6-7 November in Northampton, UK. OGS currently has a drug called OGT 918 in clinical trials involving patients with Type 1 Gaucher disease. (February 2000).

A New Drug on Trial for Gaucher's Disease
In March 1998 a clinical trial started with a drug named OGT 918. The trial involves centres in the UK, Europe and Israel and will examine the effects of the drug on a number of Gaucher patients over a 12 month dosing period . This drug might be suitable for Type 3 patients although the trials are currently only on Type 1 patients. (January 1999).

See also Gene Therapy


Main contents
Most of the information relating to Type 1 Gaucher's Disease is also relevant to chronic neuronopathic (Type 3) patients, so do look at the other pages too.

Other Relevant Web Sites

E Mail Discussion List and Chat Room

Gauchers Association Aims and Disclaimer

Main contents. Contenido en español (Spanish translations).


This page last updated 3 July 2007
© All pages copyright Gauchers Association 1996-2007.