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| Sponsor: | Shire Human Genetic Therapies, Inc. |
|---|---|
| Information provided by: | Shire Human Genetic Therapies, Inc. |
| ClinicalTrials.gov Identifier: | NCT00954460 |
Purpose
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 | Intervention |
|---|---|
|
Gaucher Disease, Type 1 |
Drug: 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 |
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.
Eligibility| Ages Eligible for Study: | 3 Years and older |
| Genders Eligible for Study: | Both |
Inclusion Criteria:
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):
Exclusion Criteria: None
Contacts and Locations| Contact: Dan Madden (One Path) | 1-866-888-0660 |
Show 28 Study Locations| Study Director: | Gabriel M. Cohn, M.D. | Shire Human Genetic Therapies, Inc. |
More Information
| Responsible Party: | Shire Human Genetic Therapies, Inc. ( Gabriel M. Cohn, M.D., MBA, FACMG, FACOG ) |
| Study ID Numbers: | HGT-GCB-058 |
| Study First Received: | August 5, 2009 |
| Last Updated: | February 3, 2010 |
| ClinicalTrials.gov Identifier: | NCT00954460 History of Changes |
| Health Authority: | United States: Food and Drug Administration |
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Enzyme Replacement Therapy Gaucher disease glucocerebrosidase beta-glucocerebrosidase Acid beta-glucocerebrosidase |
glucosylceramidase D-glucosyl-N-acylsphingosine glucohydrolase gene activation human |
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Lipid Metabolism, Inborn Errors Sphingolipidoses Metabolic Diseases Reticuloendotheliosis Lysosomal Storage Diseases, Nervous System Lysosomal Storage Diseases Nervous System Diseases Central Nervous System Diseases Brain Diseases |
Lymphatic Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Brain Diseases, Metabolic, Inborn Lipidoses Gaucher Disease Lipid Metabolism Disorders Brain Diseases, Metabolic |