Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3

NCT06523517 | Not Yet Recruiting Phase 2

• 1 other identifier: Eliglustat
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

Brief Summary

Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to \<18 years old) with Gaucher disease type 1 and type 3. Secondary Objective: Evaluate the quality of life in Chinese pediatric patients (≥12 to \<18 years old) with Gaucher disease type 1 and type 3 treated with eliglustat.

Conditions

Gaucher Disease

Keywords

Eliglustat

Outcome Measures

Primary Outcomes (9)

• Changes in hemoglobin level

  Absolute change from baseline for hemoglobin (g/dL)

  Baseline, Weeks 13, 26, 39 and 52

• Changes in platelet count

  Percent change from baseline for platelet count

  Baseline, Weeks 13, 26, 39 and 52

• Changes in spleen volume

  Percent change from baseline for spleen volume

  Baseline, Weeks 26 and 52

• Changes in liver volume

  Percent change from baseline for liver volume

  Baseline, Weeks 26 and 52

• Changes in Lyso-GL1 level

  Percent change from baseline for Lyso-GL1 level

  Baseline, Weeks 13, 26, 39 and 52

• Skeletal improvement

  Proportion of patients with improvement in skeletal disease

  Baseline, Weeks 26 and 52

• Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax

  Peak concentration (Cmax) of eliglustat in plasma (ng/mL)

  Baseline, Weeks 2, 13, 26 and 52

• Assessment of pharmacokinetic (PK) parameter of eliglustat: Ctrough

  Trough concentration (Ctrough) of eliglustat in plasma (ng/mL)

  Baseline, Weeks 2, 13, 26 and 52

• Adverse events

  Number of adverse events in pediatric patients

  Up to Week 52

Secondary Outcomes (1)

• Changes in Quality of Life

  Baseline and Week 52

Study Arms (1)

treatment group

EXPERIMENTAL

Eliglustat Tartrate Capsules, either 42 mg or 84 mg taken orally twice a day for 52 weeks.

Drug: Eliglustat Tartrate Capsules

Interventions

Eliglustat Tartrate Capsules DRUG

The initial dose is 42 mg taken orally twice a day. After 2 weeks of treatment, if the blood trough concentration is less than 5 ng/mL, the dose will be increased to 84 mg taken orally twice daily.

treatment group

Eligibility Criteria

• Age: 12 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• The patient is ≥12 to \<18 years old at the time of informed consent.
• The patient is diagnosed with Gaucher disease based on the following criteria:
• Glucocerebrosidase (GBA) activity reduced to ≤30% of the lower limit of normal, or
• GBA activity reduced by \>30% of the lower limit of normal, but confirmed by glucocerebrosidase (GBA) genotype.
• Postmenarchal female patients must have a documented negative pregnancy test prior to enrollment and throughout the study.
• Patients must have been receiving enzyme replacement therapy (ERT) for a minimum of 24 months at a monthly dose equivalent to 30 U/kg to 130 U/kg of enzyme, with treatment ongoing at the time of enrollment. Patients must meet pre-specified treatment goals defined as:
• Hemoglobin levels: ≥11.0 g/dL for females and ≥12.0 g/dL for males;
• Platelet count ≥100,000/mm³;
• Spleen volume \<10.0 multiples of normal (MN);
• Liver volume \<1.5 MN.
• After explaining and discussing all relevant aspects of the study with the patients and their guardians, patients and their guardians must voluntarily sign the written informed consent form approved by the institutional ethics committee.
• Cytochrome P450 2D6 (CYP2D6) genotype testing shows extensive metabolizers (EMs) or intermediate metabolizers (IMs).
• Patients agree to avoid consuming grapefruit and grapefruit juice.
• Patients agree to discontinue medications listed as contraindicated for concomitant use.
• Participants must be able to cooperate fully as determined by the Principal Investigator to be eligible for the study.

You may not qualify if:

• Underwent substrate reduction therapy (SRT) for GD or received miglustat treatment within 12 months prior to enrollment.
• Underwent partial or total splenectomy prior to enrollment or experienced active, clinically significant splenic infarction within the previous 12 months.
• The patient is transfusion-dependent; has a history of esophageal varices or liver infarction; elevated liver enzymes; significant congenital cardiac defect; coronary artery disease; left-sided heart failure; clinically significant arrhythmias; or conduction defects such as Type 2 second-degree or third-degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT).
• Presence of significant comorbidities, as determined by the Principal Investigator, which may affect study data or confound study results (e.g., malignancies, primary biliary cirrhosis, autoimmune liver disease, pulmonary complications, cardiac structural or functional abnormalities, etc.).
• The patient with any clinically significant disease other than GD.
• Experienced severe bone disease such as new-onset bone crises or fractures within 12 months prior to enrollment.
• The patient has received an investigational product within 30 days prior to enrollment.
• The patient has a known hereditary galactose intolerance, Lapp lactase deficiency, glucose galactose malabsorption, or is a CYP2D6 ultra-rapid metabolizer or indeterminate metabolizer.
• The patient is currently receiving erythropoiesis-stimulating agents (e.g., erythropoietin) or long-term systemic corticosteroid therapy, or received such treatment within 6 months prior to enrollment.
• Positive hepatitis B surface antigen (HBsAg) test results with detectable hepatitis B virus DNA load; positive hepatitis C virus (HCV) antibody with confirmation by HCV RNA polymerase chain reaction (PCR) testing; and positive human immunodeficiency virus (HIV) antibody at screening.
• Presence of non-GD-related hemolytic anemia (such as due to iron, folate, and/or vitamin B12 deficiency or infection/immune-mediated causes) at screening. Patients with folate deficiency, vitamin B12 deficiency-related anemia, or iron deficiency-related anemia at screening are ineligible for study enrollment and will be considered screening failures. Patients may receive treatment for underlying conditions and be re-screened at the discretion of the Principal Investigator.
• The patient and their guardian are unable to comprehend the nature, scope, and potential consequences of the study.
• The Principal Investigator determines that the patient is unsuitable for participation in the clinical trial based on the subject's overall condition.

Sponsors & Collaborators

• Peking Union Medical College Hospital: lead

Study Sites (1)

Peking union medical college hospital

Beijing, China

Location

MeSH Terms

Conditions

Gaucher Disease

Interventions

eliglustat

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

• Bing Han

  Peking Union Medical College

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Bing Han

CONTACT

+8613601059938; hanbing_li@sina.com

Leyu Wang

CONTACT

+8618239490957; wangleyu_ys@163.com

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: July 18, 2024
• First Posted: July 26, 2024
• Study Start: August 1, 2024
• Primary Completion: July 31, 2025
• Study Completion: July 31, 2025
• Last Updated: July 26, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)