Eliglustat on Gaucher Disease Type IIIB

National Taiwan University

Status

Completed

Conditions

Gaucher Disease, Type III

Treatments

Drug: Eliglustat

Study type

Interventional

Funder types

Other

Industry

Identifiers

NCT03519646

201612250MIPB

Details and patient eligibility

About

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.

Full 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.

Enrollment

4 patients

Sex

All

Ages

6+ years old

Volunteers

Accepts Healthy Volunteers

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 .