Gaucher disease
Conditions
Interventions
Experimental Group:Egermostat 84 mg, BID
Sponsors
Chinese PLA General Hospita
Eligibility
Sex/Gender
All
Age
18 Years to 60 Years
Inclusion criteria
Inclusion criteria: 1. Confirmed diagnosis of type 1 Gaucher disease based on the following criteria, as determined by the investigator: Decreased glucocerebrosidase (GCB) activity to =30% normal, or GCB activity decreased by >30% normal, but confirmed by genetic mutation testing; 2. Age: 18~60 years old; 3. Have not received ERT treatment for Gaucher disease in the past; 4. Hemoglobin level 70-100g/L (female), 70-110g/L (male) and/or platelet count (40-99)×10^9/L; 5. Abdominal imaging (magnetic resonance imaging [MRI] or computed tomography [CT], spleen volume >=8 times normal), and/or abdominal imaging (MRI or CT scan) evaluation; Subject has hepatomegaly; Subjects who have undergone splenectomy 12 months ago must meet these criteria for this study; 6. If a woman of childbearing potential, must agree to use a medically acceptable method of contraception at all times for the duration of the study and for 30 days after the last dose of the investigational medicinal product, and must have a negative pregnancy test result at screening and throughout study participation. Male subjects must agree to use a medically acceptable method of contraception at all times for the duration of the study and for 30 days after the last dose of the investigational drug and are required to report their partner's pregnancy; 7. After explaining to the subject and discussing all relevant aspects of this study with them, the subject (and/or his legally authorized representative) must voluntarily sign a written ICF approved by the Institutional Ethics Committee; 8. Cytochrome P4502D6 (CYP2D6) genotype detection is strong metabolic type (EMs), intermediate metabolic type (IMs); 9. Patient agrees to avoid the consumption of grapefruit and grapefruit juice; 10. The patient agrees to stop taking the drugs in the list of contraindications for concomitant medications; 11. In the judgment of the investigator, it is necessary to be able to fully cooperate in order to participate in the study.
Exclusion criteria
Exclusion criteria: 1. Have type 3 Gaucher disease, or suspected to have type 3 Gaucher disease as assessed by the investigator (e.g., subject has Gaucher disease-related central nervous system manifestations or abnormal electroencephalogram (EEG) examination; 2. Have undergone splenectomy or had active, clinically significant splenic infarction within 12 months prior to screening; 3. Received megrastat or ERT treatment within 12 months prior to screening; 4. Have a new bone crisis or severe bone disease such as fracture within 12 months before screening; 5. Currently receiving erythrocyte growth factor (e.g., erythropoietin), long-term systemic corticosteroid therapy, or have received such therapy within 6 months prior to screening; 6. Positive hepatitis B surface antigen (HBsAg) test result combined with detectable hepatitis B virus DNA load, hepatitis C virus (HCV) antibody positive confirmed by HCVRNA polymerase chain reaction test, and human immunodeficiency virus (HIV) antibody positive; 7. Presence of non-Gaucher disease-associated pernicious anemia (e.g., due to iron, folic acid, and/or vitamin B12 deficiency or infection/immune-mediated causes) at screening. Subjects with folic acid deficiency, vitamin B12 deficiency-related anemia, or iron deficiency-related anemia during the screening period do not meet the study inclusion criteria and will be considered as screening failure. Subjects may be treated for underlying diseases and re-screened at the discretion of the investigator; 8. Subject's inability to understand the nature, scope, and possible consequences of this study; 9. Presence of significant comorbidities that, in the opinion of the investigator, may affect the study data or confounding study results (e.g., malignancy, primary biliary cirrhosis or autoimmune liver disease, gastric variceal bleeding, pulmonary complications; abnormal heart structure or function, etc.); 10. Inability to comply with the study protocol in the judgment of the investigator (e.g., presence of a clinically significant medical condition that makes it difficult to perform the study protocol, uncooperative attitude, inability to return to the study center for safety assessments, or other conditions in which it is unlikely to complete the study); 11. Pregnant and/or lactating females.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Spleen Volume;Hemoglobin level;Platelet count; | — |
Secondary
| Measure | Time frame |
|---|---|
| Skeletal changes;Quality of life assessment;Content of biomarker (chitotriglycosidase or Lyso-GL1).; | — |
Countries
China
Contacts
Public ContactYan Meng
First Medical Center of Chinese PLA General Hospita
Outcome results
None listed