A Screening Study Evaluating Disease Status of Gaucher Type I Patients

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

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.

Study Overview

• Status: Withdrawn
• Conditions: Gaucher Disease, Type 1

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.

• Study Type: Observational

Contacts and Locations

Study Locations

• India
  • Lucknow, India, 226014
    • Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGI)
  • Mumbai, India, 400026
    • Jaslok Hospital and Research Center
• United States
  • New York
    • New York, New York, United States, 10029
      • The Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 65 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Gaucher Disease Type 1

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Screening Group

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company

Study record dates

Study Major Dates

• Study Start: December 1, 2008
• Primary Completion (Actual): December 1, 2009
• Study Completion (Actual): December 1, 2009

Study Registration Dates

• First Submitted: November 19, 2008
• First Submitted That Met QC Criteria: November 19, 2008
• First Posted (Estimate): November 21, 2008

Study Record Updates

• Last Update Posted (Estimate): May 8, 2015
• Last Update Submitted That Met QC Criteria: May 7, 2015
• Last Verified: May 1, 2015

More Information

Terms related to this study

• Keywords: glucosylceramide,; Gaucher Disease,; acid B-glucosidase,; gluco cerebrosidase,
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease
• Other Study ID Numbers: GZGD02808