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National Gaucher Foundation Commemorates 25 Years of Service to the Gaucher community

Tucker, GA...2009 marks a milestone for the National Gaucher Foundation (NGF). Founded in Maryland by the Berman family in 1984 as a non-profit organization, the Foundation is celebrating 25 years of service to all families and individuals affected by Gaucher disease.

Approximately 1 in 60,000 people in the general population have some form of Gaucher disease. 1 in 200 is a carrier of Gaucher disease. The Ashkenazi Jewish population is affected in far greater numbers with 1 in 450 having the Disease and 1 in 10 to 15 carrying the Gaucher gene.

Gaucher disease is a rare genetic disease also known as a Lysosomal Storage disorder. It can cause Osteoporosis, bone deterioration, unusual bruising, easy bleeding and nose bleeds, anemia, fatigue and distended stomach due to an enlarged liver and/or spleen. The Disease has a devastating effect and is sometimes fatal. To date, there is no cure, but fortunately, there are treatments for Type 1, the most common form of Gaucher disease. Due to the neurological involvement with Type 2 Gaucher disease, an affected child will not live beyond 18 months. Because of treatments, those with Gaucher disease Type 3, which also has neurological involvement, have a longer life expectancy, well into adulthood.

Prior to 1991, that was not the case. There were no treatments available, so in the mid-1980s, a team of researchers and scientists headed by Dr. Roscoe Brady, Scientist Emeritus at the NIH, began working on a treatment. Dr. Robin A. Ely, Medical Director and President of the NGF, became part of that team. At the time, one of her sons, Brian Berman, was desperately ill from the effects of Gaucher disease and his chances of survival were in question. Dr. Ely quit her family practice and worked for no remuneration to help find a treatment and/or cure for Gaucher disease. By 1990, an infusion treatment known as Ceredase was developed by Genzyme Therapeutics. Dr. Ely's son became the first person to receive the treatment and in 1991, the FDA approved Ceredase, an enzyme replacement therapy (ERT) for use in individuals with Gaucher disease. Dr. Ely and her family were pivotal in this process and raised millions of dollars to help produce the drug for treatment.

Dr. Ely has six children and three of them have Gaucher disease. Today, thanks to a dedicated team of researchers, Genzyme Therapeutics and a family that never lost hope, all three of Dr. Ely's children are doing well. The National Gaucher Foundation has much to commemorate in 2009. Lives have and will be saved because of a group of people who believed that nothing was impossible. Their ingenuity, commitment and devotion made a treatment possible. Since then, much progress has been made in the development of treatments for Gaucher disease.

In the past few years, pharmaceutical companies have conducted research and trials in an effort to develop alternative treatments to provide treatment options to those with Gaucher disease. In addition to Cerezyme, its enzyme replacement therapy (ERT), Genzyme Therapeutics is in clinical trials to develop an oral treatment. Actelion Pharmaceuticals developed Zavesca, a capsule which has been approved for adults with mild to moderate type 1 Gaucher disease for whom enzyme replacement therapy ERT) is not an option. Shire Human Genetic Therapies is developing another form of enzyme replacement therapy (ERT) using gene-activated human glucocerebrosidase, while Protalix Biotherapeutics is in clinical trials with ERT using plant cells. Amicus Therapeutics is developing a pharmacological chaperone (oral therapy) known as AT2101.

Where once there was no other treatment available for Gaucher disease, 25 years later, prospects abound. One can hope that sometime soon, there will be a cure.