Eliglustat on Gaucher Disease Type IIIB

• Register: ClinicalTrials.gov
• Last refreshed on: 26 September 2022
• Main ID: NCT03519646
• Date of registration: 20/03/2018
• Prospective Registration: Yes
• Primary sponsor: National Taiwan University Hospital
• Public title: Eliglustat on Gaucher Disease Type IIIB
• Scientific 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.
• Date of first enrolment: April 23, 2018
• Target sample size: 4
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT03519646
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: N/A

Countries of recruitment

Taiwan

Contacts

• Name: Ni-Chung Lee, M.D., Ph.D
• Affiliation: National Taiwan University Hospital

Key inclusion & exclusion 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 .



Age minimum: 6 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Gaucher Disease, Type III

Intervention(s)

Drug: Eliglustat

Primary Outcome(s)

Adverse Events [Time Frame: From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first.]

Secondary Outcome(s)

Assessment of Gaucher related biomarkers test :Lyso GL1(30% decrease) [Time Frame: Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.]

Pharmacokinetics [Time Frame: 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.]

Change in lymphadenopathy manifestations. [Time Frame: From date of enrollment with information consent form until 24 months or date of death from any cause, whichever came first.]

Assessment of Gaucher related biomarkers test:Chitotriosidase(30% decrease) [Time Frame: Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.]

Assessment of Gaucher related biomarkers test :CCL18 (30% decrease) [Time Frame: Baseline,1,3,6,12,18 and 24 months after receiving Cerdelga.]

Secondary ID(s)

201612250MIPB

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Sanofi