Status:

COMPLETED

A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease

Lead Sponsor:

Shire

Conditions:

Gaucher Disease, Type 1

Eligibility:

All Genders

2+ years

Phase:

PHASE3

Brief Summary

Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to this deficiency of functional GCB, glucocerebroside accumulates within macr...

Detailed Description

Type 1 Gaucher disease, the most common form, accounts for more than 90% of all cases and does not involve the Central Nervous System (CNS). Typical manifestations of type 1 Gaucher disease include he...

Eligibility Criteria

Inclusion

  • Patient has a documented diagnosis of type 1 Gaucher disease, as determined by deficient glucocerebrosidase (GCB) activity relative to normal as measured in leukocytes or by genotype analysis and is willing and able to provide written informed consent prior to initiating any study-related procedures
  • Patient is at least 2 years of age
  • Patient has Gaucher disease-related anemia and
  • Patient has at least moderate splenomegaly or
  • Patient has Gaucher disease-related thrombocytopenia or
  • Patient has a readily palpable enlarged liver
  • Patient has not received treatment for Gaucher disease within 30 months prior to study entry
  • Female patients of child-bearing potential agree to use a medically acceptable method of contraception. Male patients must agree to use a medically acceptable method of birth control.
  • Patient must be sufficiently cooperative to participate in the study as judged by the Investigator.

Exclusion

  • Includes:
  • Patient has type 2 or 3 Gaucher disease or is suspected of having type 3 Gaucher disease
  • Patient is antibody-positive to imiglucerase during screening or has experienced an anaphylactic reaction to imiglucerase
  • Patient has received treatment with any investigational drug or device within the 30 days prior to study entry
  • Patient is Human immunodeficiency virus (HIV) positive
  • Patient is hepatitis positive
  • Patient presents with iron, folic acid and/or vitamin B12 deficiency sustained anemia during screening
  • 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
  • Patient has a significant comorbidity(ies)that might affect study data or confound the study results
  • Patient is a pregnant and/or lactating female
  • Patient is unable to comply with the protocol or is unlikely to complete the study, as determined by the Investigator

Key Trial Info

Start Date :

February 15 2007

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

April 1 2009

Estimated Enrollment :

25 Patients enrolled

Trial Details

Trial ID

NCT00430625

Start Date

February 15 2007

End Date

April 1 2009

Last Update

June 29 2021

Active Locations (5)

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Page 1 of 2 (5 locations)

1

Hipolito Yrigoyen

Buenos Aires, Argentina

2

Shaare Zedek Medical Center

Jerusalem, Israel

3

Sociedad Espanola de Socorros Mutuos

Asunción, Paraguay

4

National Research Center for Haematology

Moscow, Russia