Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00954460
Expanded Access Status : Approved for marketing
First Posted : August 7, 2009
Last Update Posted : February 21, 2014
Information provided by (Responsible Party):

Brief Summary:
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.

Condition or disease Intervention/treatment
Gaucher Disease, Type 1 Drug: velaglucerase alfa

Detailed Description:
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.

Study Type : Expanded Access
Official Title: Multicenter Open-Label Treatment Protocol to Observe the Safety of Gene-Activated™ Human Glucocerebrosidase (GA-GCB, Velaglucerase Alfa) ERT in Newly Diagnosed or Previously Treated (With Imiglucerase) Patients With Type 1 Gaucher Disease

Intervention Details:
  • Drug: velaglucerase alfa
    up to 60 U/kg, every other week via intravenous infusion
    Other Names:
    • VPRIV
    • Gene activated human glucocerebrosidase
    • GA-GCB

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00954460

  Hide Study Locations
United States, Arizona
St Joseph's Hospital & Medical Center
Phoenix, Arizona, United States, 85013
United States, California
Tower Hematology Oncology
Beverly Hills, California, United States, 90211-1850
Rady's Children's Hospital of San Diego
La Jolla, California, United States, 92093
Southern California Permanente Medical Group
Los Angeles, California, United States, 90027
The Permanente Medical Group
Sacramento, California, United States, 95815
Stanford University Medical Genetics
Stanford, California, United States, 94305-5208
United States, Colorado
Rocky Mountain Cancer Centers
Denver, Colorado, United States, 80218
United States, Connecticut
Yale University
New Haven, Connecticut, United States, 06510
United States, Florida
University Research Foundation for Lysosomal Storage Diseases
Coral Springs, Florida, United States, 33065
Gainesville Hematology Oncology Associates
Gainesville, Florida, United States, 32605-4218
Adventis Healthcare System dba Florida Hospital
Orlando, Florida, United States, 32804-4603
East Lake Oncology
Palm Harbor, Florida, United States, 34685
United States, Georgia
Emory Genetics
Decatur, Georgia, United States, 30033
United States, Illinois
Children's Memorial Hospital
Chicago, Illinois, United States, 60614
United States, Iowa
University of Iowa Hospitals and Clinics
Iowa City, Iowa, United States, 52242
United States, Maryland
Annapolis Oncology Center
Annapolis, Maryland, United States, 21401
Sinai Hospital of Baltimore
Baltimore, Maryland, United States, 21215
United States, Massachusetts
University of Massachusetts
Shrewsbury, Massachusetts, United States, 01545
United States, Minnesota
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, United States, 55404
United States, Missouri
The University Research Foundation for Lysosomal Storage Diseases
Kansas City, Missouri, United States, 64108-4619
United States, New Jersey
St. Joseph's
Patterson, New Jersey, United States, 07503
United States, New York
Hemophilia Center of Western New York Incorporated
Buffalo, New York, United States, 14215
North Shore Hematology/Oncology - Manhasset
Manhasset, New York, United States, 11030
New York University School of Medicine
New York, New York, United States, 10016
Mount Sinai School of Medicine
New York, New York, United States, 10029-6500
United States, North Carolina
Fullerton Genetic
Ashville, North Carolina, United States, 28801-4420
Duke Medical Center
Durham, North Carolina, United States, 27710
United States, Ohio
Akron Children's Hospital
Akron, Ohio, United States, 44308
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
United States, Virginia
University of Virginia Health Systems
Charlottesville, Virginia, United States, 22908-0386
O & O Alpan, LLC
Springfield, Virginia, United States, 22152
Sponsors and Collaborators
Study Director: Gabriel M. Cohn, M.D. Shire Human Genetic Therapies, Inc.

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Shire Identifier: NCT00954460     History of Changes
Other Study ID Numbers: HGT-GCB-058
First Posted: August 7, 2009    Key Record Dates
Last Update Posted: February 21, 2014
Last Verified: February 2014

Keywords provided by Shire:
Enzyme Replacement Therapy
Gaucher disease
Acid beta-glucocerebrosidase
D-glucosyl-N-acylsphingosine glucohydrolase
gene activation

Additional relevant MeSH terms:
Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders