Current Gaucher Disease Research and Clinical Trials

To better help our readers understand what is involved with clinical trials, click here for more information.

What is a clinical trial?

Although there are many definitions of clinical trials, they are generally considered to be biomedical or health-related research studies in human beings that follow a pre-defined protocol.

Click here to see an updated list of Gaucher Disease clinical tials.

Amicus Therapeutics, Inc.
CLINICAL TRIAL OVERVIEW

Protocol Title:
A RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101

IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASE

Protocol number:
GAU-CL-202

Phase of Development:
Phase 2

Investigational Product:
AT2101 - Oral Capsules

Study Objective:
This study is being conducted to test the safety of AT2101 in individuals with type I Gaucher disease who are not receiving enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). This study also will evaluate the effects of AT2101 on parameters that are commonly abnormal in Gaucher disease.

Duration of Subject Participation:
Participation in this study will be 29 weeks in length and all participants will receive AT2101.

Selected Inclusion Criteria:
Participants must be between 18-74 years of age with a confirmed diagnosis of Gaucher disease. Subjects cannot have received enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) within the past 12 months before study entry. Participants may not start ERT or SRT during the study.

For further information contact:
clinicaltrials@amicustherapeutics.com or
http://clinicaltrials.gov/ct2/show/NCT00446550

Cedars-Sinai Medical Center
Los Angeles, CA
Name of Study: Clinical Trial for Children with Gaucher Disease
Hospital or Research Facility: Cedars-Sinai Medical Center
Chief Investigator: William Wilcox, MD, PhD
Telephone number: (310) 423-6673
Email: william.wilcox@cshs.org

Emory Lysosomal Storage Disease Center
Decatur, GA

Amicus Therapeutics, Inc.
Protocol Title:
A RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101
IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASE
Protocol number:
GAU-CL-202

The Shire 044 study:
An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Biological: velaglucerase alfa

The Protalix study:
A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy.

For further information: clinicaltrials.gov http://clinicaltrials.gov/ct2/show/NCT00712348?term=protalix&rank=2

Contact:
Emory Lysosomal Storage Disease Center
2165 North Decatur Road
Decatur, GA 30033
Paul Fernhoff, MD
Karen Grinzaid, MS
kgrinzaid@genetics.emory.edu

Genzyme Therapeutics
Cambridge, Massachusetts

Study: "A Study of the Efficacy and Safety of Genz-112638 in Type I Gaucher patients". This study is ongoing, but, not recruiting participants. For information: http://www.clinicaltrials.gov/ NCT00358150

Study: "International Collaborative Gaucher Group (ICGG) Gaucher Registry". This study is currently recruiting participants. For information: http://www.clinicaltrials.gov/ NCT00358943

Massachusetts General Hospital
Boston, MA
Name of Study: A questionnaire based computerized review of clinical, sociologic and psychological status of 123 patients with Gaucher disease.
Hospital: Massachusetts General Hospital; New York University School of
Medicine
Chief Investigator: Dr. Henry J. Mankin; Dr. Gregory Pastores
Telephone Number: (617) 726-2735
Web Address: none

National Institutes of Health
Bethesda, Maryland
http://www.cc.nih.gov/participate.shtml

National Institutes of Neurological Disorders and Stroke (NIND)
Name of Study: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients with Neuronopathic Gaucher Disease
Hospital or Research facility conducting study: NINDS, NIH
Chief Investigator: Dr. Raphael Schiffmann
Telephone number: (301) 496-1465
Web address:
http://clinicaltrials.gov/ct/show/NCT00041535?order=1
http://www.cc.nih.gov/participate.shtml

New York University School of Medicine
New York, NY
Oral Therapy Being Developed for the Treatment of Gaucher Disease

The New York University School of Medicine, Division of Neurogenetics, has been selected to participate in a worldwide clinical study to test a new oral medication for the treatment of patients with type 1 Gaucher disease. The investigational drug is called Genz-112638 and it has been previously tested in three Phase 1 studies in normal volunteers. This Phase 2 study is designed to assess the serum concentrations of Genz-112638 in patients with type 1 Gaucher disease and to determine whether the drug shows to be safe and effective treatment for patients with the disease.

As physicians with expertise in treating patients with Gaucher disease, we would like to inform you that we are currently enrolling patients in this study.

As you know, the current standard of care for patients with type 1 Gaucher disease is enzyme replacement therapy (ERT) with recombinant human glucocerebrosidase (Cerezyme®Ò [imiglucerase for injection)). Cerezyme® is usually administered intravenously, every two weeks.

Genz-112638 is a new oral medication that functions by decreasing the synthesis of glucosylceramide, the substrate that accumulates in the lysosomes of patients with Gaucher disease.

Male and female patients with Gaucher type 1 disease who are between the ages of 18 and 65 years old and who weigh between 50 and 120 kg may be eligible to participate in the study, if they also meet the following criteria:

1. Hemoglobin levels of 8.0 to 10.0 g/dL if female or 8.0 to 11.0 g/dL if male,

OR a platelet count of 60,000 to 100,000/mm3, if either gender.

2. Splenomegaly, by MRI or spiral computed tomography (CT), defined as a spleen volume ³ 10 x normal.

The patients who have had a partial or total splenectomy, who received miglustat at any time prior to enrollment, or who have received enzyme replacement therapy (ERT) in the past 12 months will not be eligible for the screening.

The study drug is an oral capsule of Genz-112638 taken twice daily. The sponsor of the trial, Genzyme, will cover the cost of all assessments and the cost of the study drug. In addition, Genzyme will provide reimbursement for all study-related travel, including any necessary hotel stays, airfare, taxi fare, or train rides as well as compensation for participation in the study.

For more information please contact the primary investigator at NYU, Dr. Maryam Banikazemi at 212 263 8344 or maryam.banikazemi@med.nyu.edu

Name of Study: A questionnaire based computerized review of clinical, sociologic and psychological status of 123 patients with Gaucher disease.
Hospital: Massachusetts General Hospital; New York University School of
Medicine
Chief Investigator: Dr. Henry J. Mankin; Dr. Gregory Pastores
Telephone Number: (617) 726-2735
Web Address: none

Protalix BioTherapeutics
Carmiel, Israel

Protocol Title: A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease Treated with Imiglucerase (Cerezyme®) Enzyme Replacement Therapy

CLINICAL TRIAL OVERVIEW

In brief

This is a multi-center, open-label, switchover trial to assess the safety of prGCD in patients with Gaucher disease who are currently being treated with imiglucerase (Cerezyme®) ERT.

Patients with stable disease will be switched from their imiglucerase treatment to receive intravenous (IV) infusions of prGCD every two weeks for a total of 38 weeks. The dose of prGCD will be equal to each patient's previous imiglucerase dose. The infusions will be administered at the selected investigational site (clinic/hospital) At the end of the study eligible patients will be offered enrollment in an extension study.

For further information: clinicaltrials.gov

http://clinicaltrials.gov/ct2/show/NCT00712348?term=protalix&rank=2

Shaare Zedek Medical Center, Israel
Name of Study: "A Phase I/II Safety Study of Gene-Activated® glucocerebrosidase Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease"
Hospital or Research Facility: Shaare Zedek Medical Center/Gaucher Clinic, Israel
Chief Investigator: Ari Zimran, MD
Telephone number: 011-972-2-655-5143
Email: zimran@md.huji.ac.il

Shire Human Genetic Therapies, Inc.
As of 12/03/07

Recruiting A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Condition: Gaucher Disease, Type 1 Interventions: Biological: GA-GCB; Biological: Cerezyme®

Recruiting Multicenter Open-Label Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Condition: Gaucher Disease, Type 1 Intervention: Drug: Gene-Activated® human glucocerebrosidase (GA-GCB)

Recruiting A Study of GA-GCB Enzyme Replacement Therapy in Gaucher Disease Condition: Gaucher Disease,Type 1 Intervention: Drug: Gene-Activated® human glucocerebrosidase (GA-GCB)

Active, not recruiting Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) Condition: Gaucher Disease, Type 1 Intervention: Drug: Gene-Activated® human glucocerebrosidase (GA-GCB)

An Emerging New Treatment for Type 1 Gaucher Disease: Results of a 9-Month Phase I/II study
By Prof. Ari Zimran
Director of the Gaucher Clinic at Shaare Zedek Medical Center in Jerusalem, Israel

Shire Human Genetic Therapies, Inc. (Shire HGT) has recently completed a 9-month Phase I/II trial with Gene-Activated® human glucocerebrosidase (GA-GCB), an investigational new product, at the Gaucher Clinic at Shaare Zedek Medical Center. GA-GCB is human glucocerebrosidase which is produced in a well-characterized, continuous human cell line using proprietary Gene-Activated® technology. Unlike Cerezyme®, GA-GCB has an identical amino acid sequence to the naturally occurring human enzyme, which may be an advantage. This innovative technology has been used to develop an alternative enzyme replacement therapeutic option for patients with Gaucher disease.

The purpose of the Phase I/II study was to assess the safety and efficacy of GA-GCB in adult patients with type 1 Gaucher disease. Twelve patients received GA-GCB every other week for 9 months. Of 12 patients treated, 11 patients completed the study. There were no drug-related serious adverse events and no patient discontinued participation because of adverse events. Infusion-related reactions were limited, mild and transient. None of the treated patients developed anti-GA-GCB antibodies.

The results with GA-GCB were very impressive. Notably, the GA-GCB study did not allow children to enroll, who typically respond better to treatment, yet similar results were obtained to the seminal trial of Ceredase®, where 8 out of 12 patients were younger than 18 years of age.

In the GA-GCB trial, there were significant increases in hemoglobin (on average: 2.24g/dL; mean increase of 19.2% from baseline) and in platelet counts (on average: 40,600/mm3; mean increase of 67.6% from baseline) and also significant decreases in spleen and liver volume (by 49.5% and 18.2% from baseline, respectively).

Similarly, there were significant decreases in the biomarkers chitotriosidase (by 74.2%) and CCL18 (by 57.1%). Improvements in some parameters were apparent as early as three months after the start of the therapy.

These results suggest that Gene-Activated® human glucocerebrosidase (GA-GCB), which has an identical amino acid sequence to the naturally occurring human enzyme, holds promise as a new enzyme replacement therapy for Gaucher disease and warrants further evaluation in clinical studies in a broader population of patients. Phase III studies with GA-GCB will begin late 2006.

University Research Foundation for Lysosomal Storage Diseases, Inc.
Recruiting
Coral Springs, Florida, United States, 33065
Contact: Neal J Weinreb, MD, 954-755-1904
Principal Investigator: Neal J Weinreb, MD

This is a multi-center, open-label, switchover trial to assess the safety of prGCD in patients with Gaucher disease who are currently being treated with imiglucerase (Cerezyme®) ERT.

Patients with stable disease will be switched from their imiglucerase treatment to receive intravenous (IV) infusions of prGCD every two weeks for a total of 38 weeks. The dose of prGCD will be equal to each patient's previous imiglucerase dose. The infusions will be administered at the selected investigational site (clinic/hospital) At the end of the study eligible patients will be offered enrollment in an extension study.
For further information: boneal@winning.com

Yale University, New Haven, CT
Name of Study: Molecular Bases of Clinical Variability in Gaucher Disease
Hospital or Research facility conducting study: Yale University
Chief Investigator: Dr. Pram Mistry
Telephone number: (203) 785 3412
Email: pramod.mistry@yale.edu

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