an open-label extension study of ga-gcb ert in patients with type 1 gaucher disease

Conditions: Gaucher Disease, Type 1

Summary: the purpose of this study is to evaluate the long-term safety of every other week dosing of gene-activated® human glucocerebrosidase (ga-gcb, velaglucerase alfa) intravenously in patients with type 1 gaucher disease.

type 1 gaucher disease, the most common form,accounts for more than 90% of all cases 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. gene-activated® human glucocerebrosidase (ga-gcb,velaglucerase alfa) 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. ga-gcb contains terminal mannose residues that target the enzyme to the macrophages-the primary target cells in gaucher disease. this study was designed to determine the long-term safety of ga-gcb in men, women, and children with type 1 gaucher disease.

Eligibility criteria:
inclusion criteria: 1. the patient has completed study tkt032 or tkt034, or study hgt-gcb-039. 2. female patients of child-bearing potential must agree to use a medically acceptable method of contraception at all times during the study and must have negative results to a pregnancy test performed at the time of enrollment and as required throughout their participation in the study. 3. male patients must agree to use a medically acceptable method of contraception at all times during the study and report a partner's pregnancy to the investigator. 4. the patient, the patient's parent(s) or legal guardian(s) has provided written informed consent that has been approved by the institutional review board/independent ethics committee (irb/iec). 5. the patient must be sufficiently cooperative to participate in this clinical study as judged by the investigator exclusion criteria: 1. the patient has received treatment with any non-gaucher disease-related investigational drug or device within the 30 days prior to study entry; such use during the study is not permitted. 2. the patient is pregnant or lactating. 3. the patient, patient's parent(s), or patient's legal guardian(s) is/are unable to understand the nature, scope, and possible consequences of the study. 4. the patient has a significant comorbidity(ies) that might affect study data or confound the study results (e.g., malignancies, primary biliary cirrhosis, autoimmune liver disease, etc.). 5. the patient is unable to comply with the protocol, e.g., has a clinically relevant medical condition making implementation of the protocol difficult, has an uncooperative attitude, is unable to return for safety evaluations, or is otherwise unlikely to complete the study, as determined by the investigator

Keywords: vpriv enzyme replacement therapy gaucher disease glucocerebrosidase beta-glucocerebrosidase acid beta-glucocerebrosidase glucosylceramidase d-glucosyl-n-acylsphingosine glucohydrolase gene activation human