The first IPA Conference was held on July 2-4, 1999, in Naarden, the Netherlands. The meeting was attended by over 60 participants from 11 countries which included members of the medical and scientific community, patient organizations and industry. Presentations...

The following status statement was released by Synpac (North Carolina), Inc., on June 30, 1999 The following status statement was released by Synpac (North Carolina), Inc., on June 30, 1999 Synpac Pharmaceuticals Limited Cambois, Bedlington, Northumberland NE22 7DB...

The following article by Laura Spinney appears in BioMednews Reports (6- 25-99,#57) Glycogen storage disease type IIThe scientific name for Pompe disease, based on how glycogen builds up in the body. More causes enlargement of certain muscles, particularly the heart and tongue, due to their inability to break down glycogenA stored form of sugar used for energy. More. A team of American scientists...

Orphan Drug Designation A drug becomes an “orphan” when it receives orphan designation from the Office of Orphan Products Development, FDA. An orphan drug is a drug intended to treat diseases or conditions affecting fewer than 200,000 people per year in the United...

Following is background information and a Q & A released by the Pharming/Genzyme LLC on important issues concerning clinical trialsA research study that tests new treatments or approaches in people. More for enzymeA protein that helps the body carry out chemical reactions. More replacement therapy now underway in the Netherlands on acid maltase deficiency, Pompe’s disease. Background—Pompe Disease...

Leiden, the Netherlands/Cambridge, Mass., October 14, 1998—Pharming Group N.V. (Easdaq: PHAR), the Netherlands biopharmaceutical company, and the American biotechnology company Genzyme General (Nasdaq: GENZ), has created a joint venture to develop and commercialize...

Human Gene TherapyA developing treatment that aims to fix, replace, or add genetic instructions. More 9:1609-1616 (July 20, 1998) Mary Ann Liebert, Inc. Adenovirus-Mediated Transfer of Human Acid Maltase Gene Reduces Glycogen AccumulationThe buildup of glycogen inside cells and tissues when it is not broken down properly. More in Skeletal MuscleMuscles that control movement and are commonly affected in Pompe disease. More of Japanese Quail with Acid Maltase Deficiency S. Tsujino 1), N. Kinoshita 1), T. Tashiro 1),...

National Institutes of Health Paul Plotz, M.D., Nina Raben, M.D., Ph.D. Nina Raben, M.D., Ph.D., NIH Research Chemist, visited the Netherlands to collaborate with Dr. Arnold Reuser on genetic mutationsA change in a gene that can affect how it works. More in AMD. They studied the presence of certain disease related...

Human Molecular Genetics, January 1998 “Generalized glycogenA stored form of sugar used for energy. More storage and cardiomegaly in a knockout mouse modelA laboratory mouse used to study disease and test treatments before human trials. More of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More” by A. J. J. Reuser/A. T. van der Ploeg, et al Enzyme Replacement Therapy (ERT)A treatment that replaces the missing enzyme through IV infusion. More.......... Therapy for Glycogen Storage Disease Type IIThe scientific name for Pompe disease, based on how glycogen builds up in the body. More Acid...

Johns Hopkins University Barry J. Byrne, M.D., Ph.D. Paul D. Kessler, M.D. The following is a summary of the publication in the November 1996 issue of Proceeding of the National Academy of Science, titled “Gene delivery to skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More results in sustained...