Clinical trial NCT03519646: Eliglustat on Gaucher Disease Type IIIB
Official title: 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 type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Gaucher Disease, Type III
Keywords: Enzyme Replacement Therapy
Eliglustat (Cerdelga®)
Lead sponsor: National Taiwan University Hospital
Sponsor class: OTHER
Collaborators: name: Sanofi
First posted: 2018-05-09
Enrollment: 4
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

Eligibility criteria: 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 .

Primary outcomes:
measure: Adverse Events
timeFrame: From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first.
Secondary outcomes:
measure: Assessment of Gaucher related biomarkers test :CCL18 (30% decrease)
timeFrame: Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.
measure: Assessment of Gaucher related biomarkers test :Lyso GL1(30% decrease)
timeFrame: Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.
measure: Assessment of Gaucher related biomarkers test:Chitotriosidase(30% decrease)
timeFrame: Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.
measure: Change in lymphadenopathy manifestations.
timeFrame: From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first.
measure: Pharmacokinetics
timeFrame: 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.
Other outcomes:
Locations:
city: Taipei
country: Taiwan
facility: National Taiwan University Hospital
Study officials:
affiliation: National Taiwan University Hospital
name: Ni-Chung Lee, M.D., Ph.D
role: PRINCIPAL_INVESTIGATOR
References: