A Screening Study Evaluating Disease Status of Gaucher Type I Patients

Condition(s) targeted: Gaucher Disease Type 1

Phase: N/A

Status: Recruiting

Sponsored by: Genzyme

Official(s) and/or principal investigator(s):
Medical Monitor, Study Director, Affiliation: Genzyme

Overall contact:
Medical Information, Phone: 800-745-4447, Email: medinfo@genzyme.com

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.

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

Study design: Other, Other

Primary outcome:

A gaucher enzyme assay will be performed to confirm deficiency of glucocerebrosidase activity if no historic data is available

Demographic and medical history will be recorded

A physical examination (including measurement of height and weight) will be performed

Vital signs (blood pressure [BP], heart rate [HR], respiratory rate [RR], and temperature) will be measured.

Current use of medication and therapies will be recorded.

Urine or serum pregnancy testing will be performed on women of child-bearing potential. The radiologist must review the patient's pregnancy test results and document a negative test result prior to performing any radiologic study assessments.

Routine clinical laboratory test (serum chemistry, hematology, and urinalysis) will be performed.

Total iron binding capacity, ferritin methylmalonic acid (MMA) and homocysteine will be assessed.

A neurological examination will be performed.

An echocardiogram (ECHO) with Doppler will be performed.

A 12-Lead electrocardiogram (ECG) will be performed.

Spleen and liver volumes will be assessed using spiral computed tomography (CT) scan or magnetic resonance imaging (MRI) (preferred method).

At sites where MRI is not available and where spiral CT is used to measure spleen and liver volumes, then an ultrasound of the liver must be performed to evaluate portal hypertension.

An MRI of the lumbar spine and entire femora will be performed.

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.

Minimum age: 16 Years. Maximum age: 65 Years. Gender(s): Both.

Criteria:

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.

Medical Information, Phone: 800-745-4447, Email: medinfo@genzyme.com

Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGI), Lucknow 226014, India; Recruiting

Jaslok Hospital and Research Center, Mumbai 400026, India; Recruiting

The Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences, New York, New York 10029, United States; Recruiting

Starting date: December 2008
Ending date: December 2009
Last updated: July 30, 2009