NCT00358150

A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients

Completed Phase 2 Results posted Last updated 22 December 2016

What this trial tests

Phase 2 trial testing Eliglustat tartrate in Gaucher Disease, Type 1 in 26 participants. Completed in 1 December 2015.

Timeline

1 June 2006

Primary endpoint
1 August 2009

1 December 2015

Quick facts

Lead sponsor	Genzyme, a Sanofi Company
Phase	Phase 2
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	26
Start date	1 June 2006
Primary completion	1 August 2009
Estimated completion	1 December 2015
Sites	17 locations across United States, Argentina, Israel, Italy, Mexico, Russia

Drugs / interventions tested

• Eliglustat tartrate — full drug profile →

Conditions studied

• Gaucher Disease, Type 1 — all drugs for Gaucher Disease, Type 1 →
• Cerebroside Lipidosis Syndrome — all drugs for Cerebroside Lipidosis Syndrome →
• Glucocerebrosidase Deficiency Disease — all drugs for Glucocerebrosidase Deficiency Disease →
• Glucosylceramide Beta-Glucosidase Deficiency Disease — all drugs for Glucosylceramide Beta-Glucosidase Deficiency Disease →

Sponsor

Genzyme, a Sanofi Company — full company profile →

Who can join

Adults 18 to 65, any sex, with Gaucher Disease, Type 1 or Cerebroside Lipidosis Syndrome. Patients with the condition only — healthy volunteers not accepted.

What's being measured

Primary outcomes are the specific endpoints the trial is designed to prove or disprove.

• Percentage of Participants Demonstrating A Meaningful Clinical Response
  Time frame: Baseline, Year 1
  A meaningful clinical response was defined as an improvement in at least 2 of the 3 main efficacy parameters: a) an increase in hemoglobin of greater than or equal to (\>=) 0.5 gram/deciliter from baseline, b) an increase in platelets of \>=15 percent (%) from baseline, c) reduction in total spleen volume of \>= 15% from baseline. As hemoglobin, platelets, total spleen volume were abnormal at base

Sponsor's own description

Gaucher disease is a genetic disease that results in a deficiency of an enzyme acid beta-glucosidase, also known as glucocerebrosidase. This enzyme is needed to digest a substrate (lipid) called glucosylceramide and, to a lesser degree, glucosylsphingosine. In participants with Gaucher disease, the liver, spleen, bone marrow and brain show increases in lipid concentration, specifically in cells derived from the monocyte/macrophage system.

Eliglustat tartrate (Genz-112638) is an oral drug that may regulate the Gaucher disease process by decreasing the synthesis of glucosylceramide. The primary objective of this study is to evaluate the efficacy, safety and pharmacokinetics (PK) of eliglustat tartrate, administered as an oral dose of either 50 milligram (mg) twice daily (BID) or 100 mg BID, to men and women with Gaucher disease Type 1 for 52 weeks.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.
   Lukina E, Watman N, Arreguin EA, Banikazemi M, et al · · 2010 · cited 117× · PMID 20439622 · DOI 10.1182/blood-2010-03-273151
2. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study.
   Lukina E, Watman N, Arreguin EA, Dragosky M, et al · · 2010 · cited 99× · PMID 20713962 · DOI 10.1182/blood-2010-06-293902
3. Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment.
   Lukina E, Watman N, Dragosky M, Pastores GM, et al · · 2014 · cited 55× · PMID 24835462 · DOI 10.1016/j.bcmd.2014.04.002
4. Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.
   Lukina E, Watman N, Dragosky M, Lau H, et al · · 2019 · cited 49× · PMID 30264864 · DOI 10.1002/ajh.25300
5. Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat.
   Kamath RS, Lukina E, Watman N, Dragosky M, et al · · 2014 · cited 44× · PMID 24816856 · DOI 10.1007/s00256-014-1891-9
6. Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1.
   Peterschmitt MJ, Freisens S, Underhill LH, Foster MC, et al · · 2019 · cited 32× · PMID 31174576 · DOI 10.1186/s13023-019-1085-6
7. Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.
   Giuffrida G, Markovic U, Condorelli A, Calafiore V, et al · · 2023 · cited 30× · PMID 36782327 · DOI 10.1186/s13023-023-02623-7
8. The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
   Shayman JA. · · 2013 · cited 25× · PMID 23874009