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

Conditions
Gaucher Disease, Type 1
Registration Number
NCT00954460
Lead Sponsor
Shire
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-Activatedâ„¢ 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.

Recruitment & Eligibility

Status
APPROVED_FOR_MARKETING
Sex
All
Target Recruitment
Not specified
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

Study & Design

Study Type
EXPANDED_ACCESS
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (32)

Children's Hospitals and Clinics of Minnesota

🇺🇸

Minneapolis, Minnesota, United States

Sinai Hospital of Baltimore

🇺🇸

Baltimore, Maryland, United States

North Shore Hematology/Oncology - Manhasset

🇺🇸

Manhasset, New York, United States

Cincinnati Children's Hospital Medical Center

🇺🇸

Cincinnati, Ohio, United States

Southern California Permanente Medical Group

🇺🇸

Los Angeles, California, United States

Emory Genetics

🇺🇸

Decatur, Georgia, United States

Fullerton Genetic

🇺🇸

Asheville, North Carolina, United States

Children's Memorial Hospital

🇺🇸

Chicago, Illinois, United States

Duke Medical Center

🇺🇸

Durham, North Carolina, United States

Akron Children's Hospital

🇺🇸

Akron, Ohio, United States

Children's Hospital of Philadelphia

🇺🇸

Philadelphia, Pennsylvania, United States

St Joseph's Hospital & Medical Center

🇺🇸

Phoenix, Arizona, United States

Rocky Mountain Cancer Centers

🇺🇸

Denver, Colorado, United States

Rady's Children's Hospital of San Diego

🇺🇸

La Jolla, California, United States

Stanford University Medical Genetics

🇺🇸

Stanford, California, United States

Tower Hematology Oncology

🇺🇸

Beverly Hills, California, United States

University Research Foundation for Lysosomal Storage Diseases

🇺🇸

Coral Springs, Florida, United States

East Lake Oncology

🇺🇸

Palm Harbor, Florida, United States

Gainesville Hematology Oncology Associates

🇺🇸

Gainesville, Florida, United States

University of Iowa Hospitals and Clinics

🇺🇸

Iowa City, Iowa, United States

Annapolis Oncology Center

🇺🇸

Annapolis, Maryland, United States

University of Massachusetts

🇺🇸

Shrewsbury, Massachusetts, United States

Hemophilia Center of Western New York Incorporated

🇺🇸

Buffalo, 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

St. Joseph's

🇺🇸

Paterson, New Jersey, United States

University of Virginia Health Systems

🇺🇸

Charlottesville, Virginia, United States

O & O Alpan, LLC

🇺🇸

Springfield, Virginia, United States

The Permanente Medical Group

🇺🇸

Sacramento, California, United States

Adventis Healthcare System dba Florida Hospital

🇺🇸

Orlando, Florida, United States

The University Research Foundation for Lysosomal Storage Diseases

🇺🇸

Kansas City, Missouri, United States

Yale University

🇺🇸

New Haven, Connecticut, United States

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