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A Screening Study Evaluating Disease Status of Gaucher Type I Patients

This study has been withdrawn prior to enrollment.
(No recruitment of patients)
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company ) Identifier:
First received: November 19, 2008
Last updated: May 7, 2015
Last verified: May 2015
A screening study to identify and characterize the disease status of patients with Gaucher Type 1 disease for potential inclusion in a subsequent phase 3 clinical study.

Gaucher Disease, Type 1

Study Type: Observational
Official Title: A Screening Protocol to Characterize the Disease Status of Gaucher Type 1 Patients for Potential Inclusion in a Subsequent Phase 3 Clinical Study

Resource links provided by NLM:

Further study details as provided by Sanofi:

Biospecimen Retention:   Samples Without DNA
Blood sample/Urine sample

Enrollment: 0
Study Start Date: December 2008
Study Completion Date: December 2009
Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Screening Group
Screening Group

Detailed Description:

The primary objective of this screening study is to identify and characterize the disease status of patients with Gaucher Type 1 disease for potential inclusion in a subsequent Phase 3 clinical study which will evaluate the efficacy and safety of Genz-112638.

This will be a multi-center, multi-national screening study to assess the disease status of patients with Gaucher Type 1 disease utilizing criteria to be eligible for enrollment in a subsequent phase 3 clinical study. The assessment performed in this study are standard of care for the evaluation of symptoms of Gaucher Type 1 disease. No study drug will be administered in this screening study.


Ages Eligible for Study:   16 Years to 65 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Gaucher Disease Type 1

Inclusion Criteria:

  • The Patient (or their parent/legal guardian) is willing and able to provide written informed consent.
  • The patient has the following manifestations of Gaucher Type 1 disease identified prior to screening: A. Splenomegaly, B. Hepatomegaly, C. Anemia and /or thrombocytopenia.
  • The patient is 16 to 65 years of age. For patients < 18 years of age, the patient's Tanner stage should be ≥ 4.

Exclusion Criteria:

  • The patient has had a partial splenectomy within 36 months prior to screening or has had a total splenectomy.
  • The patient has received miglustat within 3 months prior to screening.
  • The patient has received enzyme replacement therapy within 9 months prior to screening.
  • The patient is known to have evidence of neurologic (e.g., peripheral neuropathy, tremors, seizures, Parkinsonism, or cognitive impairment) or pulmonary involvement (e.g., pulmonary hypertension) as related to Gaucher Type 1 disease.
  • The patient is known to have documentation of new pathological bone involvement (e.g., osteonecrosis, pathological fractures, etc.) or has a bone crisis (pain with acute onset which requires immobilization of the affected area, narcotics for relief of pain, and may be accompanied by periostal elevation, increased white cell count, fever, or immobility of > 3 days) in the 12 months prior to screening , as determined by investigator.
  • The patient is transfusion dependent.
  • The patient has ever had any radiation treatment.
  • The patient is known to have prior esophageal varices or liver infarction.
  • The patient is known to have clinically significant disease, other than Gaucher Type 1 disease, including cardiovascular, renal, hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic, or psychiatric disease, other medical condition, or serious intercurrent illness.
  • The patient is known to have any of the following: Clinically significant family history (sudden cardiac death in 1st or 2nd degree relatives), cardiac medical history (including myocardial infraction [MI] in the past year), or cardiac assessments/symptoms consistent with ischemia.
  • The patient is known to have any of the following: Specific arrythmias or finding on cardiac monitoring such as severe 1st degree atrioventricular (AV) block, any 2nd or 3rd degree AV block, highly frequent or runs (3 or more) of atrial premature contractions (APC's) or premature ventricular contractions (PVC's), complete left and right as well as partial left bundle branch block, or prolonged QT interval.
  • The patient has previously tested positive for the human immunodeficiency virus (HIV) antibody, Hepatitis C antibody, or Hepatitis B surface antigen.
  • The patient has received an investigational product within 30 days prior to screening.
  • The patient has a history of cancer, with the exception of basal cell carcinoma.
  • The patient is pregnant or lactating.
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Please refer to this study by its identifier: NCT00795197

United States, New York
The Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences
New York, New York, United States, 10029
Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGI)
Lucknow, India, 226014
Jaslok Hospital and Research Center
Mumbai, India, 400026
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00795197     History of Changes
Other Study ID Numbers: GZGD02808
Study First Received: November 19, 2008
Last Updated: May 7, 2015

Keywords provided by Sanofi:
Gaucher Disease,
acid B-glucosidase,
gluco cerebrosidase,

Additional relevant MeSH terms:
Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on May 25, 2017