Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. The purpose of this treatment protocol is to observe the safety of velaglucerase alfa in patients with type 1 Gaucher disease who are either treatment naive (newly diagnosed) or who are currently being treated with the Enzyme Replacement Therapy (ERT) imiglucerase.
Type 1 Gaucher disease, the most common form, accounts for more than 90% of all cases of Gaucher disease and does not involve the CNS. Typical manifestations of type 1 Gaucher disease include hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. Velaglucerase alfa (Gene-Activated™ human glucocerebrosidase;GA-GCB) is produced in a continuous human cell line using proprietary gene-activation technology and has an identical amino acid sequence to the naturally occurring human enzyme. Velaglucerase alfa contains terminal mannose residues that target the enzyme to the macrophages-the primary target cells in Gaucher disease. This treatment protocol will observe the safety of velaglucerase alfa in patients with type 1 Gaucher disease who are either treatment naive (newly diagnosed) or who are currently being treated with the Enzyme Replacement Therapy (ERT) imiglucerase. Patients currently being treated with ERT for their Gaucher disease will receive the same number of units of velaglucerase alfa per month as their imiglucerase dose for doses between 30-120 U/kg/month. For patients who experienced dose reductions in their imiglucerase treatment due to supply constraints the pre-reduction monthly dose may be used to determine the monthly dose of velaglucerase alfa.
Drug: velaglucerase alfa
up to 60 U/kg, every other week via intravenous infusion
Other Name: VPRIV
Other Name: Gene activated human glucocerebrosidase
Other Name: GA-GCB
Inclusion Criteria: 1. The patient has a documented diagnosis of type 1 Gaucher disease 2. The patient is > 2 years of age 3. The patient has NOT previously experienced an anaphylactic or anaphylactoid reaction to another ERT including imiglucerase 4. Women of child-bearing potential must agree to use a medically acceptable method of contraception at all times during the study; and must have a negative result to a pregnancy test as required throughout their participation in the study. Male patients must use a medically acceptable method of birth control throughout their participation in the study and must report their partner's pregnancy. 5. The patient is sufficiently cooperative to participate in this treatment plan as judged by the Investigator 6. If the patient is naïve or new to treatment, the patient has one or more of the following (in absence of the following criteria, please call the sponsor for treatment justification): - Gaucher disease-related anemia - Moderate splenomegaly (2 to 3 cm below the left costal margin), by palpation - Gaucher disease-related thrombocytopenia - Gaucher disease-related palpable enlarged liver
Exclusion Criteria: None
St Joseph's Hospital & Medical Center
Phoenix, Arizona, 85013
Tower Hematology Oncology
Beverly Hills, California, 90211-1850
Rady's Children's Hospital of San Diego
La Jolla, California, 92093
Southern California Permanente Medical Group
Los Angeles, California, 90027
The Permanente Medical Group
Sacramento, California, 95815
Stanford University Medical Genetics
Stanford, California, 94305-5208
Rocky Mountain Cancer Centers
Denver, Colorado, 80218
Yale University
New Haven, Connecticut, 06510
University Research Foundation for Lysosomal Storage Diseases
Coral Springs, Florida, 33065
Gainesville Hematology Oncology Associates
Gainesville, Florida, 32605-4218
Adventis Healthcare System dba Florida Hospital
Orlando, Florida, 32804-4603
East Lake Oncology
Palm Harbor, Florida, 34685
Emory Genetics
Decatur, Georgia, 30033
Children's Memorial Hospital
Chicago, Illinois, 60614
University of Iowa Hospitals and Clinics
Iowa City, Iowa, 52242
Annapolis Oncology Center
Annapolis, Maryland, 21401
Sinai Hospital of Baltimore
Baltimore, Maryland, 21215
University of Massachusetts
Shrewsbury, Massachusetts, 01545
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, 55404
The University Research Foundation for Lysosomal Storage Diseases
Kansas City, Missouri, 64108-4619
St. Joseph's
Paterson, New Jersey, 07503
Hemophilia Center of Western New York Incorporated
Buffalo, New York, 14215
North Shore Hematology/Oncology - Manhasset
Manhasset, New York, 11030
New York University School of Medicine
New York, New York, 10016
Mount Sinai School of Medicine
New York, New York, 10029-6500
Fullerton Genetic
Asheville, North Carolina, 28801-4420
Duke Medical Center
Durham, North Carolina, 27710
Akron Children's Hospital
Akron, Ohio, 44308
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
University of Virginia Health Systems
Charlottesville, Virginia, 22908-0386
O & O Alpan, LLC
Springfield, Virginia, 22152
Study Director
Study Director
Takeda