A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease

Status

Completed

Phases

Phase 4

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT04002830

Enrollment

Registered

2019-07-01

Start date

2020-11-20

Completion date

2023-07-30

Last updated

2024-12-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Gaucher Disease, Type 3

Brief summary

This is a multicenter study to assess the safety and efficacy of taliglucerase alfa (60 units/kg) in previously untreated subjects of any age with Type 3 GD. Subjects will receive an infusion of taliglucerase alfa every 2 weeks for 12 months. Subjects who tolerate the infusions well, and who are treated in centers where home therapy is the SOC will be allowed to switch from site to home treatment at the discretion of the PI but after no less than 3 uneventful infusions at the site.

Detailed description

Patients with Type 3 GD exhibit both visceral and neurologic manifestations. In addition to the progressive neurologic involvement, somatic disease manifestations, especially splenomegaly and resulting cytopenia, contribute to significant mortality and morbidity . The effects of enzyme replacement therapy (ERT) on patients with Type 1 GD have been clearly documented and have a beneficial effect on visceral and hematologic disease parameters . It is known that recombinant enzyme does not pass the blood-brain barrier and has no effect on neurologic involvement . Probably due to the rarity of Type 3 GD, information on the somatic effects of ERT is largely limited to case reports or single-center series. There are also few reviews of cohorts but the clinical subtype, age, genotype, ERT dosage, accompanying therapies, and treatment response vary widely among patients in these cohorts. This prospective study aims to objectively evaluate the hematologic and visceral effects of ERT with taliglucerase alfa on a rather clinically and genetically homogenous group of treatment-naïve patients with Type 3 GD . For the purposes of this study, subjects receiving no Gaucher-specific medications for at least 12 months will be considered untreated. The results of this study are expected to provide a more objective view of the degree of response of this patient type, and potentially create new areas of research.

Interventions

DRUGElelyso

Taliglucerase alfa is currently an approved therapy in the United States and many other countries for adults and children with a confirmed diagnosis of Type 1 GD ,and is also approved for use in Type 3 GD in a small number of countries.

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Intervention model description

Type 3 Gaucher disease patients

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

1. Male or female of any age; however, if female: * must be using contraception if of childbearing potential or must be surgically sterile * must not be lactating 2. Diagnosis of Type 3 GD by enzyme and sequence analysis; and confirmed by the Medical Monitor. 3. Splenomegaly at least 5 x multiples of normal (MN). 4. Treatment-naïve.

Exclusion criteria

Eligible subjects may not have any of the following

Design outcomes

Primary

Measure	Time frame	Description
Percent Change From Baseline in Spleen Volume Measured by MRI	from baseline to month 12	Percent change from baseline

Secondary

Measure	Time frame	Description
Percent Change From Baseline in Liver Volume Measured by MRI	from baseline to month 12	Percent change from baseline
Percent Change in Hemoglobin	from baseline to Months 3, 6, 9, and 12	Percent change from baseline
Percent Change in Platelet Count	from baseline to Months 3, 6, 9, and 12	Percent change from baseline
Percent Change in Lyso-GB1	from baseline to Months 3, 6, 9, and 12	Percent change from baseline

Countries

India, Israel, Turkey (Türkiye)

Participant flow

Pre-assignment details

If a patient did not meet the inclusion criteria or meet any of the exclusion criteria listed in the protocol, the patient was excluded at screening visits and was not enrolled.

Participants by arm

Arm	Count
Taliglucerase Alfa Intravenous infusion of Taligluucerase alfa (Elelyso) in treatment-naive patients with type 3 Gaucher disease Elelyso: Taliglucerase alfa is currently an approved therapy in the United States and many other countries for adults and children with a confirmed diagnosis of Type 1 GD ,and is also approved for use in Type 3 GD in a small number of countries.	14
Total	14

Baseline characteristics

Characteristic	Taliglucerase Alfa
Age, Categorical <=18 years	14 Participants
Age, Categorical >=65 years	0 Participants
Age, Categorical Between 18 and 65 years	0 Participants
Age, Continuous	3.2 years
Ethnicity (NIH/OMB) Hispanic or Latino	0 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	14 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants
Race (NIH/OMB) Asian	13 Participants
Race (NIH/OMB) Black or African American	0 Participants
Race (NIH/OMB) More than one race	0 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants
Race (NIH/OMB) White	1 Participants
Region of Enrollment India	13 participants
Region of Enrollment Israel	1 participants
Sex: Female, Male Female	7 Participants
Sex: Female, Male Male	7 Participants

Adverse events

Event type	EG000 affected / at risk
deaths Total, all-cause mortality	0 / 14
other Total, other adverse events	9 / 14
serious Total, serious adverse events	1 / 14

Arm	Measure	Group	Value (MEDIAN)	Dispersion
Taliglucerase Alfa	Percent Change in Platelet Count	3 months	2.50 percentage change in platelet count (%)	Standard Error 66.09
Taliglucerase Alfa	Percent Change in Platelet Count	6 months	53.33 percentage change in platelet count (%)	Standard Error 56.2
Taliglucerase Alfa	Percent Change in Platelet Count	9 months	94.44 percentage change in platelet count (%)	Standard Error 54.2
Taliglucerase Alfa	Percent Change in Platelet Count	12 months	122.44 percentage change in platelet count (%)	Standard Error 79.82

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026