Eliglustat on Gaucher Disease Type IIIB
- Registration Number
- NCT03519646
- Lead Sponsor
- National Taiwan University Hospital
- Brief Summary
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.
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 4
- 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.
- 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 & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Experimental Case_Eiglustat Eliglustat Besides regular ERT, patients also need to take Eiglustat for 24 months.
- Primary Outcome Measures
Name Time Method Adverse Events From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first. Number of adverse events in patients.
- Secondary Outcome Measures
Name Time Method Assessment of Gaucher related biomarkers test :Lyso GL1(30% decrease) Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga. Measure of Gaucher disease type I biomarkers:Lyso GL1 (ng/mL) in plasma
Assessment of Gaucher related biomarkers test :CCL18 (30% decrease) Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga. Measure of Gaucher disease type I biomarkers:CCL18(ng/ml) in plasma.
Assessment of Gaucher related biomarkers test:Chitotriosidase(30% decrease) Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga. Measure of Gaucher disease type I biomarkers:Chitotriosidase(nmol/ml/h) in plasma.
Change in lymphadenopathy manifestations. From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first. 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.
Pharmacokinetics 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. Eliglustat plasma concentration over time
Trial Locations
- Locations (1)
National Taiwan University Hospital
🇨🇳Taipei, Taiwan
National Taiwan University Hospital🇨🇳Taipei, Taiwan