A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)

NCT ID: NCT00943111

Last Updated: 2016-11-25

Study Results

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE3

Total Enrollment

160 participants

Study Classification

INTERVENTIONAL

Study Start Date

2009-09-30

Study Completion Date

2015-06-30

Brief Summary

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This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had reached therapeutic goals with enzyme replacement therapy (ERT).

Detailed Description

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Gaucher disease is characterized by lysosomal accumulation of glucosylceramide due to impaired glucosylceramide hydrolysis. Gaucher disease type 1, which is the most common form, accounts for greater than (\>) 90% of cases and does not involve the central nervous system (CNS). Typical manifestations of Gaucher disease type 1 include splenomegaly, hepatomegaly, thrombocytopenia, anemia, bone disease, and decreased quality of life. The disease manifestations are caused by the accumulation of glucosylceramide (storage material) in macrophages (called Gaucher cells) which have infiltrated the spleen and liver as well as other tissues.

Eliglustat tartrate is a small molecule drug developed as an oral therapy which acts to specifically inhibit production of this storage material in Gaucher cells.

This study was designed to determine the efficacy, safety, and PK of eliglustat tartrate in adult participants with Gaucher disease type 1 who had been stabilized on ERT.

Conditions

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Gaucher Disease, Type 1

Keywords

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Gaucher disease, Genz-112638, beta-glucosidase, acid ß-glucosidase, glucocerebrosidase, glucosylceramide, D-glucosyl-N-acylsphingosine glucohydrolase, substrate reduction therapy

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Investigational

Eliglustat tartrate

Group Type EXPERIMENTAL

Eliglustat tartrate

Intervention Type DRUG

Primary analysis period (PAP): Eliglustat tartrate capsule 50 milligram (mg) twice daily (BID) orally from Day 1 to Week 4 followed by eliglustat tartrate 50 mg or 100 mg capsule BID up to Week 8, and then eliglustat tartrate 50 mg or 100 mg or 150 mg capsule BID up to Week 52. Dose adjustments after Week 4 and Week 8 were based on Genz-99067 (active moiety of eliglustat tartrate in plasma) trough plasma concentrations. If Genz-99067 trough plasma concentration was less than (\<) 5 nanogram per milliliter \[ng/mL\] next higher dose was administered whereas if Genz-99067 trough plasma concentration was greater than or equal to (\>=) 5 ng/mL same dose was continued. Pharmacokinetic (PK) assessment at Week 2 and 6 were used for dose adjustment after Week 4 and Week 8, respectively.

Long-term treatment period (LTTP): Participants originally randomized to eliglustat in PAP continued to receive eliglustat dose, based on their Genz 99067 plasma trough concentration at Week 6.

Imiglucerase

Group Type ACTIVE_COMPARATOR

Imiglucerase

Intervention Type DRUG

PAP: Imiglucerase intravenous infusion every other week (q2w) up to Week 52 in doses equivalent to participant's past ERT dose prior to any unanticipated treatment interruption, dose reduction, or regimen change.

LTTP: Participants originally randomized to imiglucerase received eliglustat tartrate capsule 50 mg BID orally from Week 52+1 Day to Week 56 followed by eliglustat tartrate 50 mg or 100 mg capsule BID up to Week 60, and then eliglustat tartrate 50 mg or 100 mg or 150 mg capsule BID up to 5 years. The dose adjustments after Week 56 and Week 60 were based on Genz-99067 (active moiety of eliglustat tartrate in plasma) trough plasma concentrations. If Genz-99067 trough plasma concentration was \<5 ng/mL the next higher dose was administered whereas if the Genz-99067 trough plasma concentration was \>=5 ng/mL the same dose was continued. The PK assessment at Week 54 and Week 58 were used for dose adjustment after Week 56 and Week 60, respectively.

Interventions

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Eliglustat tartrate

Primary analysis period (PAP): Eliglustat tartrate capsule 50 milligram (mg) twice daily (BID) orally from Day 1 to Week 4 followed by eliglustat tartrate 50 mg or 100 mg capsule BID up to Week 8, and then eliglustat tartrate 50 mg or 100 mg or 150 mg capsule BID up to Week 52. Dose adjustments after Week 4 and Week 8 were based on Genz-99067 (active moiety of eliglustat tartrate in plasma) trough plasma concentrations. If Genz-99067 trough plasma concentration was less than (\<) 5 nanogram per milliliter \[ng/mL\] next higher dose was administered whereas if Genz-99067 trough plasma concentration was greater than or equal to (\>=) 5 ng/mL same dose was continued. Pharmacokinetic (PK) assessment at Week 2 and 6 were used for dose adjustment after Week 4 and Week 8, respectively.

Long-term treatment period (LTTP): Participants originally randomized to eliglustat in PAP continued to receive eliglustat dose, based on their Genz 99067 plasma trough concentration at Week 6.

Intervention Type DRUG

Imiglucerase

PAP: Imiglucerase intravenous infusion every other week (q2w) up to Week 52 in doses equivalent to participant's past ERT dose prior to any unanticipated treatment interruption, dose reduction, or regimen change.

LTTP: Participants originally randomized to imiglucerase received eliglustat tartrate capsule 50 mg BID orally from Week 52+1 Day to Week 56 followed by eliglustat tartrate 50 mg or 100 mg capsule BID up to Week 60, and then eliglustat tartrate 50 mg or 100 mg or 150 mg capsule BID up to 5 years. The dose adjustments after Week 56 and Week 60 were based on Genz-99067 (active moiety of eliglustat tartrate in plasma) trough plasma concentrations. If Genz-99067 trough plasma concentration was \<5 ng/mL the next higher dose was administered whereas if the Genz-99067 trough plasma concentration was \>=5 ng/mL the same dose was continued. The PK assessment at Week 54 and Week 58 were used for dose adjustment after Week 56 and Week 60, respectively.

Intervention Type DRUG

Other Intervention Names

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Genz-112638 Cerezyme®

Eligibility Criteria

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Inclusion Criteria

* The participant (and/or their parent/legal guardian) was willing and able to provide signed informed consent prior to any study-related procedures to be performed
* The participant was at least 18 years old at the time of randomization
* The participant had a confirmed diagnosis of Gaucher disease type 1
* The participant had received treatment with ERT for at least 3 years. Within the 9 months prior to randomization, the participant had received a total monthly dose of 30 to 130 Units/kilogram for at least 6 months
* The participant had reached Gaucher disease therapeutic goals prior to randomization
* Female participants of childbearing potential must have had a documented negative pregnancy test prior to dosing. In addition, all female participants of childbearing potential must use a medically accepted form of contraception throughout the study

Exclusion Criteria

* The participant had a partial or total splenectomy within 3 years prior to randomization
* The participant had received substrate reduction therapies for Gaucher disease within 6 months prior to randomization
* The participant had Gaucher disease type 2 or 3 or was suspected of having Gaucher disease type 3
* The participant had any clinically significant disease, other than Gaucher disease, including cardiovascular, renal, hepatic, gastrointestinal (GI), pulmonary, neurologic, endocrine, metabolic (e.g. hypokalemia, hypomagnesemia), or psychiatric disease, other medical conditions, or serious intercurrent illnesses that may confound the study results or, in the opinion of the Investigator, may preclude participation in the study
* The participant had tested positive for the human immunodeficiency virus (HIV) antibody, Hepatitis C antibody, or Hepatitis B surface antigen
* The participant had received an investigational product within 30 days prior to randomization
* The participant was pregnant or lactating
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Medical Monitor

Role: STUDY_DIRECTOR

Genzyme, a Sanofi Company

Locations

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Tower Hematology Oncology Medical Group

Beverly Hills, California, United States

Site Status

UCSF MS Center

San Francisco, California, United States

Site Status

University of Colorado Health Science Center - Aurora

Aurora, Colorado, United States

Site Status

Yale University School of Medicine

New Haven, Connecticut, United States

Site Status

Northwest Oncology Hematology Associates PA

Coral Springs, Florida, United States

Site Status

Emory University Medical Genetics

Decatur, Georgia, United States

Site Status

Children's Memorial Hospital

Chicago, Illinois, United States

Site Status

University of Iowa Hospitals and Clinics

Iowa City, Iowa, United States

Site Status

Albany Medical Center

Albany, New York, United States

Site Status

North Shore University Medical Center

Manhasset, New York, United States

Site Status

Mount Sinai School of Medicine

New York, New York, United States

Site Status

New York University School of Medicine

New York, New York, United States

Site Status

Duke University Medical Center

Durham, North Carolina, United States

Site Status

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, United States

Site Status

O and O Alpan LLC

Springfield, Virginia, United States

Site Status

Hospital General de Agudos J.M Ramos Mejia

Buenos Aires, , Argentina

Site Status

Hospital General de Ninos Dr. Ricardo Gutierrez

Buenos Aires, , Argentina

Site Status

Royal Perth Hospital

Perth, WA, , Australia

Site Status

Hospital de Clinicas da Universidade Federal do Parana

Curitiba, , Brazil

Site Status

Instituto de Estadual de Hematologia Arthur de Siqueria Cavalcanti

Rio de Janeiro, , Brazil

Site Status

IGEIM

São Paulo, , Brazil

Site Status

Mount Sinai Hospital and the Samuel Lunenfeld Research Institute

Toronto Ontario, , Canada

Site Status

Abou El Reesh Children's University Hospital (El Mounira), Faculty of Medicine (Kasr Al-Aini), Cairo University Hospitals, El Mounira, Cairo, Egypt

Cairo, , Egypt

Site Status

Hôpital Beaujon

Clichy, , France

Site Status

Charité Universitätsmedizin Berlin

Berlin, , Germany

Site Status

Asklepios Klinik St. Georg

Hamburg, , Germany

Site Status

Katholische Kliniken Oberhausen gem. GmbH

Oberhausen, , Germany

Site Status

Azienda Ospedaliero Universitaria Careggi

Florence, , Italy

Site Status

Azienda Ospedialiero-Universitaria S. Maria Della Misericordia

Udine, , Italy

Site Status

Hematology Research Center of Ministry of Healthcare of the Russian Federation

Moscow, , Russia

Site Status

Hospital University Miguel Servet

Zaragoza, , Spain

Site Status

Cambridge University Hosptials, Addenbrookes Hospital

Cambridge, , United Kingdom

Site Status

Countries

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Czechia Netherlands Turkey (Türkiye) United States Argentina Australia Brazil Canada Egypt France Germany Italy Russia Spain United Kingdom

References

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Lukina E, Watman N, Arreguin EA, Banikazemi M, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Rosenthal DI, Kaper M, Singh T, Puga AC, Bonate PL, Peterschmitt MJ. A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood. 2010 Aug 12;116(6):893-9. doi: 10.1182/blood-2010-03-273151. Epub 2010 May 3.

Reference Type BACKGROUND
PMID: 20439622 (View on PubMed)

Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Kamath RS, Rosenthal DI, Kaper M, Singh T, Puga AC, Peterschmitt MJ. 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. Blood. 2010 Nov 18;116(20):4095-8. doi: 10.1182/blood-2010-06-293902. Epub 2010 Aug 16.

Reference Type BACKGROUND
PMID: 20713962 (View on PubMed)

McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, Hutto E, Shayman JA, Grabowski GA, Aerts JM, Cheng SH, Copeland DP, Marshall J. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab. 2007 Jul;91(3):259-67. doi: 10.1016/j.ymgme.2007.04.001. Epub 2007 May 16.

Reference Type BACKGROUND
PMID: 17509920 (View on PubMed)

Kamath RS, Lukina E, Watman N, Dragosky M, Pastores GM, Arreguin EA, Rosenbaum H, Zimran A, Aguzzi R, Puga AC, Norfleet AM, Peterschmitt MJ, Rosenthal DI. Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol. 2014 Oct;43(10):1353-60. doi: 10.1007/s00256-014-1891-9. Epub 2014 May 10.

Reference Type BACKGROUND
PMID: 24816856 (View on PubMed)

Lukina E, Watman N, Dragosky M, Pastores GM, Arreguin EA, Rosenbaum H, Zimran A, Angell J, Ross L, Puga AC, Peterschmitt JM. Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment. Blood Cells Mol Dis. 2014 Dec;53(4):274-6. doi: 10.1016/j.bcmd.2014.04.002. Epub 2014 May 15.

Reference Type BACKGROUND
PMID: 24835462 (View on PubMed)

Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJM, Tayag R, Peterschmitt MJ. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. Blood. 2017 Apr 27;129(17):2375-2383. doi: 10.1182/blood-2016-12-758409. Epub 2017 Feb 6.

Reference Type DERIVED
PMID: 28167660 (View on PubMed)

Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Ross L, Angell J, Puga AC. Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. Lancet. 2015 Jun 13;385(9985):2355-62. doi: 10.1016/S0140-6736(14)61841-9. Epub 2015 Mar 26.

Reference Type DERIVED
PMID: 25819691 (View on PubMed)

Other Identifiers

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2008-005223-28

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

EFC12812

Identifier Type: OTHER

Identifier Source: secondary_id

GZGD02607

Identifier Type: -

Identifier Source: org_study_id