A Screening Study Evaluating Disease Status of Gaucher Type I Patients

Recruitment & Eligibility

Status: Completed

Sex: All

Target Recruitment: 100

Inclusion Criteria

1. The patient (or their parent/legal guardian) is willing and able to provide written informed consent.
1. The patient has the following manifestations of Gaucher Type 1 disease identified prior to screening: A.
Splenomegaly B.
Hepatomegaly C.
Anemia and/or thrombocytopenia 3) 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 totalsplenectomy.2) The patient has received miglustat within 3 months prior to screening.3) The patient has received enzyme replacement therapy within 9 months prior to screening.4) The patient is known to have any evidence of neurologic (e.g., peripheral neuropathy, tremor,seizures, Parkinsonism, or cognitive impairment) or pulmonary involvement (e.g., pulmonaryhypertension) as related to Gaucher Type 1 disease.5) The patient has documentation of new pathological bone involvement (e.g. osteonecrosis,pathological fractures, etc.) or has a bone crisis (pain with acute onset which requiresimmobilization of the affected area, narcotics for relief of pain, and may be accompanied byperiosteal elevation, increased white cell count, fever, or immobility of > 3 days) in the 12 monthsprior to screening.6) The patient is transfusion-dependent.7) The patient has ever had any radiation treatment.8) The patient is known to have prior esophageal varices or liver infarction.9) The patient is known to have a 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.10) The patient is known to have any of the following: Clinically significant family history (suddencardiac death in 1st or 2nd degree relatives), cardiac medical history (including myocardialinfarction [MI] in the past year), or cardiac assessments/symptoms consistent with ischemia.11) The patient is known to have any of the following: Specific arrhythmias or findings on cardiacmonitoring such as severe 1st degree atrioventricular (AV) block, any 2nd or 3rd degree AVblock, highly frequent or runs (3 or more) of atrial premature contractions (APCs) or prematureventricular contractions (PVCs), complete left and right as well as partial left bundle branch block, or prolonged QT interval.12) The patient has previously tested positive for the human immunodeficiency virus (HIV) antibody,Hepatitis C antibody, or Hepatitis B surface antigen.13) The patient has received an investigational product within 30 days prior to screening.14) The patient has a history of cancer, with the exception of basal cell carcinoma.15) The patient is pregnant or lactating.

Study & Design

Study Type: Observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
A gaucher enzyme assay will be performed to confirm deficiency of glucocerebrosidase activity if no historic data is available	Approx. 1 week

Secondary Outcome Measures

Name	Time	Method
Spleen and liver volumes will be assessed using spiral computed tomography (CT) scan or magnetic resonance imaging (MRI) (preferred method).	Approx. 1 week

Trial Locations

Locations (4): Christian Medical College & Hospital
🇮🇳
Vellore, TAMIL NADU, India
Jaslok Hospital & Research Centre
🇮🇳
Mumbai, MAHARASHTRA, India
Sanjay Gandhi Postgraduate Institute of Medical Sciences
🇮🇳
Lucknow, UTTAR PRADESH, India
Sir Gangaram Hospital
🇮🇳
Delhi, DELHI, India
Christian Medical College & Hospital
🇮🇳Vellore, TAMIL NADU, India
Dr Sumita Danda
Principal investigator
sdanda@cmcvellore.ac.in