Gaucher disease is a rare genetic disorder that occurs when a person lacks an enzyme called glucocerebrosidase. The most common form of this disorder is type 1 Gaucher disease. Type 1 Gaucher disease can start at any age, but recently it has been shown that about half of all patients are diagnosed before 18 years of age.
These patients have variable combinations of problems with anemia, low platelet counts (causing risk of bleeding), enlargement of abdominal organs (spleen and liver), bone pain and abnormal bones with increased risks of fractures, and often growth delay.
Since 1992, an intravenous enzyme replacement therapy (ERT) has been used to treat all type 1 Gaucher patients, as well as those Gaucher patients with no neurologic problems. Because Gaucher disease is a relatively rare condition, no single research center follows enough patients to be able to make statistically significant conclusions about the effectiveness of long-term enzyme replacement therapy. However, the Gaucher Registry includes multiple years of clinical data from more than 800 pediatric patients with type 1 Gaucher disease.
Hans C. Andersson, M.D., Director of the Hayward Genetics Center and Professor of Human Genetics at Tulane University Medical Center, will discuss research that he and his colleagues recently conducted to investigate the long-term efficacy of enzyme replacement therapy in children with type 1 Gaucher Disease. In this study, Dr. Andersson's research team analyzed clinical response of 884 pediatric patients with type 1 Gaucher disease during treatment up to eight years. No study to date has ever described long-term outcomes in such a large, international group of pediatric patients.
The results of Andersson's research indicate that within eight years of ERT, most clinical measures studied in the patient cohort became normal or near normal. Over 35 percent of the patients had significant growth delay (shorter than 95 percent of age-matched children) at baseline; however, at the end of eight years of treatment, their growth had virtually normalized. The data also indicate that all patients with anemia were cured of this complication, and over 95 percent of patients had significant resolution of their low platelet count. Furthermore, liver and spleen volumes were dramatically reduced over the treatment period, and patient complaints of severe bone pain were significantly reduced after only two years of therapy.
"This study is the first of its kind to document the long-term effectiveness of enzyme replacement therapy in children with type 1 Gaucher disease," said Andersson. "This study should prove to be a very useful tool for pediatricians who can use these results as a guideline for tracking the progress of their patients over multiple years of treatment."
Hans C. Andersson, M.D., FACMG, is the Karen Gore Professor of Human Genetics and Director of the Hayward Genetics Center at Tulane University Medical School, where he directs the Biochemical Genetics Lab. He also serves as a Regional Coordinator for the International Collaborative Gaucher Group. Andersson's research has elucidated clinical features and pathophysiology of inherited metabolic genetic disorders.
This research was presented at the 58th Annual Meeting of The American Society of Human Genetics (ASHG) in Philadelphia, Pennsylvania on November 11-15, 2008.
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