Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of theenzyme 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 toobserve the safety of velaglucerase alfa in patients with type 1 Gaucher disease who areeither treatment naive (newly diagnosed) or who are currently being treated with theEnzyme 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,Gene activated human glucocerebrosidase,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, United States
Tower Hematology Oncology
Beverly Hills, California, United States
Rady's Children's Hospital of San Diego
La Jolla, California, United States
Southern California Permanente Medical Group
Los Angeles, California, United States
The Permanente Medical Group
Sacramento, California, United States
Stanford University Medical Genetics
Stanford, California, United States
Rocky Mountain Cancer Centers
Denver, Colorado, United States
Yale University
New Haven, Connecticut, United States
University Research Foundation for Lysosomal Storage Diseases
Coral Springs, Florida, United States
Gainesville Hematology Oncology Associates
Gainesville, Florida, United States
Adventis Healthcare System dba Florida Hospital
Orlando, Florida, United States
East Lake Oncology
Palm Harbor, Florida, United States
Emory Genetics
Decatur, Georgia, United States
Children's Memorial Hospital
Chicago, Illinois, United States
University of Iowa Hospitals and Clinics
Iowa City, Iowa, United States
Annapolis Oncology Center
Annapolis, Maryland, United States
Sinai Hospital of Baltimore
Baltimore, Maryland, United States
University of Massachusetts
Shrewsbury, Massachusetts, United States
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, United States
The University Research Foundation for Lysosomal Storage Diseases
Kansas City, Missouri, United States
St. Joseph's
Paterson, New Jersey, United States
Hemophilia Center of Western New York Incorporated
Buffalo, New York, United States
North Shore Hematology/Oncology - Manhasset
Manhasset, New York, United States
New York University School of Medicine
New York, New York, United States
Mount Sinai School of Medicine
New York, New York, United States
Fullerton Genetic
Asheville, North Carolina, United States
Duke Medical Center
Durham, North Carolina, United States
Akron Children's Hospital
Akron, Ohio, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
University of Virginia Health Systems
Charlottesville, Virginia, United States
O & O Alpan, LLC
Springfield, Virginia, United States
Study Director, Study Director
Takeda