A Screening Study Evaluating Disease Status of Gaucher Type I Patients

NCT00795197 | Withdrawn

• 1 other identifier: GZGD02808
• Study Type: observational
• Target: N/A
• Locations: 2 countries
• Sites: 3

Brief Summary

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.

Conditions

Gaucher Disease, Type 1

Keywords

Gaucher Disease,; acid B-glucosidase,; gluco cerebrosidase,; glucosylceramide,

Study Arms (1)

Screening Group

Screening Group

Eligibility Criteria

• Age: 16 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Gaucher Disease Type 1

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (3)

The Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences

New York, New York, 10029, United States

Location

Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGI)

Lucknow, 226014, India

Location

Jaslok Hospital and Research Center

Mumbai, 400026, India

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood sample/Urine sample

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 19, 2008
• First Posted: November 21, 2008
• Study Start: December 1, 2008
• Primary Completion: December 1, 2009
• Study Completion: December 1, 2009
• Last Updated: May 8, 2015

Record last verified: 2015-05

Locations

US (1); IN (2)