Eliglustat on Gaucher Disease Type IIIB

Evaluation of the Safety in the Combination Usage of Cerdelga and Cerezyme in Type III Gaucher Disease Patients and the Efficacy on Soft Tissue Diseases.

Evaluation of the safety in the combination usage of Cerdelga and Cerezyme in type III Gaucher disease patients and the efficacy on soft tissue diseases.

Study Overview

• Status: Completed
• Conditions: Gaucher Disease, Type III
• Intervention / Treatment: Drug: Eliglustat

Detailed Description

• This is a 3-year study and the enrollment time of this study is 24 months.
• The participants have to receive the investigational agent:Cerdelga.(Cerdelga have 21 mg、42 mg and 84 mg capsule.)
• The participants have to go back to the hospital and receive the investigational agent and take the Gaucher related biomarkers test before receiving Cerdelga, and 2 weeks, 1, 3, 6, 12, 18 and 24 months after receiving Cerdelga.
• The participants have to inform if any adverse events happened.
• The investigators will follow up by phone if adverse events happened in the participants after one months start the treatment.

• Study Type: Interventional
• Enrollment (Actual): 4
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Taiwan
  • Taipei, Taiwan, 10041
    • National Taiwan University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Gaucher disease patients diagnosed by low B-glucocerebrosidase deficiency and GBA mutation .
• The participant is at least 6 years old at time of enrollment.
• Under stable Cerezyme dosage for at least for 3 months.
• Presence of lymphadenopathy.
• Patient (and/or their parent/legal guardian) is willing to participate and able to provide signed informed consent.

Exclusion Criteria:

• The participant is CYP2D6 ultra-rapid metabolizer.
• The participant had received substrate reduction therapy for Gaucher disease within 3 months of enrollment.
• The participant had any clinically significant disease other than GD, including cardiovascular (especially arrhythmia), renal, liver, pulmonary, endocrinopathy, hypokalemia, or hypomagnesemia that may confound the study result.
• The participant is pregnant or lactating.
• The participant is known to be allergy to Cerdelga.
• The participant use drugs that will strongly inhibit CYP2D6 or CYP3A activity .

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Experimental Case_Eiglustat; Besides regular ERT, patients also need to take Eiglustat for 24 months.

Drug: Eliglustat; This is a 3-year study and the enrollment time of this study is 24 months.; The participants have to receive the investigational agent, Cerdelga; The participants have to go back to the hospital and receive the investigational agent and take the test before receving Cerdelga, and 2 weeks, 1, 3, 6, 12, 18 and 24 months after receiving Cerdelga.; IMP Administration Method: Cerdelga have 21 mg、42 mg and 84 mg capsule.; No need for fasting before use, but can't take with grapefruit juice.; Five ml Blood and 10 ml urine shoud be taken before receiving Cerdelga, and 1, 3, 6, 12, 18 and 24 months after receiving Cerdelga for Gaucher related biomarkers test.; Other Names: Cerdelga

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Adverse Events	Number of adverse events in patients.	From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Assessment of Gaucher related biomarkers test :CCL18 (30% decrease)	Measure of Gaucher disease type I biomarkers:CCL18(ng/ml) in plasma.	Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.
Assessment of Gaucher related biomarkers test :Lyso GL1(30% decrease)	Measure of Gaucher disease type I biomarkers:Lyso GL1 (ng/mL) in plasma	Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.
Assessment of Gaucher related biomarkers test:Chitotriosidase(30% decrease)	Measure of Gaucher disease type I biomarkers:Chitotriosidase(nmol/ml/h) in plasma.	Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.
Change in lymphadenopathy manifestations.	Physician will pay close attention to the lymphadenopathy including size, location, and number of enlarged lymph nodes, evaluate by palpation and radiological (MRI examination). The total size of the lympadenopathy will be combined into one report as "Total size" cm^3.	From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first.
Pharmacokinetics	Eliglustat plasma concentration over time	Plasma concentration-time data will be obtained pre-dose (within 30 minutes prior to dosing) and at 1, 2, 6, 12, 26, 36 hours after 1st dosing, and 1,3,6,12,18 and 24 months thereafter.

Collaborators and Investigators

• Sponsor: National Taiwan University Hospital
• Collaborators: Sanofi
• Investigators: Principal Investigator: Ni-Chung Lee, M.D., Ph.D, National Taiwan University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): April 23, 2018
• Primary Completion (Actual): September 11, 2020
• Study Completion (Actual): September 11, 2020

Study Registration Dates

• First Submitted: March 20, 2018
• First Submitted That Met QC Criteria: May 7, 2018
• First Posted (Actual): May 9, 2018

Study Record Updates

• Last Update Posted (Actual): September 15, 2022
• Last Update Submitted That Met QC Criteria: September 13, 2022
• Last Verified: January 1, 2021

More Information

Terms related to this study

• Keywords: Enzyme Replacement Therapy; Eliglustat (Cerdelga®)
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease; Molecular Mechanisms of Pharmacological Action; Enzyme Inhibitors; Eliglustat
• Other Study ID Numbers: 201612250MIPB

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: Yes