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

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ClinicalTrials.gov Identifier: NCT04002830
Recruitment Status : Active, not recruiting
First Posted : July 1, 2019
Last Update Posted : July 22, 2022
Information provided by (Responsible Party):
Ari Zimran, Shaare Zedek Medical Center

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.

Condition or disease Intervention/treatment Phase
Gaucher Disease, Type 3 Drug: Elelyso Phase 4

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 14 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description: Type 3 Gaucher disease patients
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease
Actual Study Start Date : November 20, 2020
Estimated Primary Completion Date : July 30, 2023
Estimated Study Completion Date : August 1, 2023

Arm Intervention/treatment
Experimental: Taliglucerase Alpha
Intravenous infusion of Taligluucerase alfa (Elelyso) in treatment-naive patients with type 3 Gaucher disease
Drug: 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.
Other Name: Taliglucerase Alfa

Primary Outcome Measures :
  1. Percent change from baseline in spleen volume measured by MRI [ Time Frame: from baseline to month 12 ]
    Percent change from baseline

Secondary Outcome Measures :
  1. Percent change from baseline in liver volume measured by MRI [ Time Frame: from baseline to month 12 ]
    Percent change from baseline

  2. Percent change in hemoglobin [ Time Frame: from baseline to Months 3, 6, 9, and 12 ]
    Percent change from baseline

  3. Percent change in platelet count [ Time Frame: from baseline to Months 3, 6, 9, and 12 ]
    Percent change from baseline

  4. Percent change in Lyso-GB1 [ Time Frame: from baseline to Months 3, 6, 9, and 12 ]
    Percent change from baseline

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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 exclusion criteria:

  1. Type 2 GD.
  2. Presence of myoclonic seizures.
  3. At least one allele of:

    • N370S (N409S in recent nomenclature)
    • R496H (R535H in recent nomenclature)
  4. Presence of calcification in heart valves or arteries in echocardiography.
  5. Presence of untreated iron, folic acid, vitamin B12 deficiency and/or hypothyroidism. (Resolved anemia is not an exclusion criterion.)
  6. Presence of human immunodeficiency virus (HIV), hepatitis B surface antigen (HBsAg), and/or hepatitis C infections.
  7. Splenectomy and bone marrow transplantation.
  8. Presence of any medical, emotional, behavioural, or psychological condition that in the judgment of the Investigator would interfere with the subject's compliance with the requirements of the study.
  9. Any other disorder that may interfere with the results of the efficacy endpoints.
  10. Pregnancy or breastfeeding.
  11. Currently taking another investigational drug for any condition or any therapeutic drug for Gaucher disease.
  12. The subject and/or subject's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the study.
  13. Medical history of any food/drugs allergy.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04002830

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All India Institute of Medical Sciences
New Delhi, India
Shaare Zedek Medical Center
Jerusalem, Israel, 9103102
Gazi University
Ankara, Turkey
Sponsors and Collaborators
Ari Zimran
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Principal Investigator: Ari Zimran, Prof. Shaare Zedek Medical Center
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Responsible Party: Ari Zimran, PI, Shaare Zedek Medical Center
ClinicalTrials.gov Identifier: NCT04002830    
Other Study ID Numbers: WI224302
First Posted: July 1, 2019    Key Record Dates
Last Update Posted: July 22, 2022
Last Verified: July 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: Yes
Additional relevant MeSH terms:
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Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders