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
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.

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.

Approved for marketing
Intermediate-size Population
Gaucher Disease, Type 1

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

Eligibility Criteria

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

Eligibility Gender
Eligibility Age
Minimum: 3 Years
United States

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

NCT Number
Enzyme Replacement Therapy
Gaucher disease
Acid beta-glucocerebrosidase
D-glucosyl-N-acylsphingosine glucohydrolase
gene activation
MeSH Terms
Gaucher Disease