Gaucher Disease

Rare Diseases
17
Pipeline Programs
6
Companies
37
Clinical Trials
2 recruiting
2
Approved Products

Pipeline by Development Stage

Preclinical
Phase 1
Phase 1/2
Phase 2
Phase 2/3
Phase 3
On Market
0
3
1
2
1
6
4
Early DiscoveryClinical DevelopmentMarket

Drug Modality Breakdown

Small Molecule
3100%
+ 23 programs with unclassified modality

On Market (2)

Approved therapies currently available

Pfizer
ELELYSOApproved
taliglucerase alfa
Pfizer
Hydrolytic Lysosomal Glucocerebroside-specific Enzyme [EPC]intravenous2012
Takeda
VPRIVApproved
velaglucerase alfa
Takeda
Hydrolytic Lysosomal Glucocerebroside-specific Enzyme [EPC]intravenous2010

Competitive Landscape

6 companies ranked by most advanced pipeline stage

Pfizer
PfizerNEW YORK, NY
6 programs
4
1
Taliglucerase alfaPhase 41 trial
Taliglucerase alfaPhase 31 trial
Taliglucerase alfaPhase 31 trial
Taliglucerase alfaPhase 31 trial
Taliglucerase alfaPhase 31 trial
+1 more programs
Active Trials
NCT00962260No Longer Available
NCT01411228Completed15Est. Aug 2014
NCT00712348Completed31Est. May 2013
+3 more trials
Takeda
TakedaTOKYO, Japan
5 programs
1
1
1
Digital Engagement ApplicationPhase 41 trial
velaglucerase alfaPhase 35 trials
GA-GCBPhase 2/32 trials
Home Therapy With VPRIV in Gaucher's DiseaseN/A1 trial
Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in IndiaN/A1 trial
Active Trials
NCT01356537Completed34Est. Sep 2017
NCT04429984Completed21Est. Apr 2023
NCT00478647Completed40Est. Jun 2009
+7 more trials
Sanofi
SanofiPARIS, France
11 programs
3
1
Eliglustat, GZ385660Phase 31 trial
eliglustatPhase 1Small Molecule1 trial
eliglustatPhase 1Small Molecule1 trial
eliglustatPhase 1Small Molecule1 trial
A National Study in Patients With Unexplained SplenomegalyN/A1 trial
+6 more programs
Active Trials
NCT04430881Completed506Est. Apr 2021
NCT04997772Completed80Est. Mar 2024
NCT02785744Completed76Est. Sep 2019
+8 more trials
Amicus Therapeutics
Amicus TherapeuticsPA - Philadelphia
2 programs
2
afegostat tartratePhase 21 trial
afegostat tartratePhase 21 trial
Active Trials
NCT00446550CompletedEst. Aug 2009
NCT00813865CompletedEst. May 2012
Eli Lilly and Company
Eli Lilly and CompanyINDIANAPOLIS, IN
1 program
1
LY3884961Phase 1/21 trial
Active Trials
NCT05487599Recruiting15Est. Nov 2031
C
CENTOGENEGermany - Rostock
1 program
Genetic testing and Omics analysisN/A1 trial
Active Trials
NCT05526664Active Not Recruiting25Est. Dec 2025

Trial Timeline

Clinical trial activity over time

2021
2022
2023
2024
2025
2026
2027
2028
2029
2030
2031
TakedaDigital Engagement Application
Takedavelaglucerase alfa
PfizerTaliglucerase alfa
Takedavelaglucerase alfa
SanofiEliglustat, GZ385660
Takedavelaglucerase alfa
Takedavelaglucerase alfa
PfizerTaliglucerase alfa
PfizerTaliglucerase alfa
PfizerTaliglucerase alfa
PfizerTaliglucerase alfa
Takedavelaglucerase alfa
TakedaGA-GCB
Amicus Therapeuticsafegostat tartrate
Amicus Therapeuticsafegostat tartrate

Showing 15 of 35 trials with date data

Clinical Trials (37)

Total enrollment: 13,407 patients across 37 trials

NCT04718779TakedaDigital Engagement Application

A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy

Start: Apr 2021Est. completion: Feb 20234 patients
Phase 4Completed
NCT02574286Takedavelaglucerase alfa

Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease

Start: Jun 2016Est. completion: Nov 202021 patients
Phase 4Completed
NCT01132690PfizerTaliglucerase alfa

A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease

Start: Aug 2010Est. completion: Jul 201211 patients
Phase 4Completed
NCT05529992Takedavelaglucerase alfa

A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease

Start: Jan 2023Est. completion: Aug 202420 patients
Phase 3Completed
NCT02536755SanofiEliglustat, GZ385660

Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies

Start: Oct 2015Est. completion: Jun 202131 patients
Phase 3Completed
NCT01842841Takedavelaglucerase alfa

Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease

Start: Mar 2013Est. completion: Oct 20145 patients
Phase 3Completed
NCT01614574Takedavelaglucerase alfa

Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease

Start: Mar 2012Est. completion: May 20136 patients
Phase 3Completed
NCT01411228PfizerTaliglucerase alfa

A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease

Start: Sep 2011Est. completion: Aug 201415 patients
Phase 3Completed
NCT01422187PfizerTaliglucerase alfa

A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease

Start: Aug 2011Est. completion: Sep 201419 patients
Phase 3Completed
NCT00712348PfizerTaliglucerase alfa

Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase

Start: Dec 2008Est. completion: May 201331 patients
Phase 3Completed
NCT00705939PfizerTaliglucerase alfa

Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial

Start: Jun 2008Est. completion: Aug 201345 patients
Phase 3Completed
NCT00553631Takedavelaglucerase alfa

Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease

Start: Jan 2008Est. completion: May 200934 patients
Phase 3Completed
NCT00478647TakedaGA-GCB

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase

Start: Jul 2007Est. completion: Jun 200940 patients
Phase 2/3Completed
NCT00813865Amicus Therapeuticsafegostat tartrate

A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients

Start: May 2009Est. completion: May 2012
Phase 2Completed
NCT00446550Amicus Therapeuticsafegostat tartrate

A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease

Start: Jun 2008Est. completion: Aug 2009
Phase 2Completed
NCT05487599Eli Lilly and CompanyLY3884961

A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)

Start: Dec 2022Est. completion: Nov 203115 patients
Phase 1/2Recruiting
NCT01685216Takedavelaglucerase alfa

Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease

Start: Sep 2012Est. completion: Mar 20157 patients
Phase 1/2Completed
NCT00391625TakedaGA-GCB

Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)

Start: Sep 2004Est. completion: Jan 200810 patients
Phase 1/2Completed
NCT02536937Sanofieliglustat

A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate

Start: Sep 2015Est. completion: Jan 201732 patients
Phase 1Completed
NCT02536911Sanofieliglustat

A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate

Start: Sep 2015Est. completion: Dec 201624 patients
Phase 1Completed
NCT02422654Sanofieliglustat

Taste Evaluation of Different Liquid Formulations With Eliglustat

Start: Apr 2015Est. completion: May 20158 patients
Phase 1Completed
NCT00962260PfizerPlant cell expressed recombinant glucocerebrosidase

Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease

N/ANo Longer Available
NCT00954460Takedavelaglucerase alfa

Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease

N/AApproved For Marketing
NCT05669729Takedavelaglucerase alfa

A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion

Start: Sep 2026Est. completion: Sep 202760 patients
N/ANot Yet Recruiting
NCT06258577SanofiScreening for Gaucher Disease and Acid Sphingomyelinase Deficiency

Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

Start: May 2024Est. completion: Dec 202850 patients
N/ANot Yet Recruiting
NCT05908656SanofiInvestigational procedure

Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)

Start: Apr 2024Est. completion: Aug 202413 patients
N/ACompleted
NCT05526664CENTOGENEGenetic testing and Omics analysis

Omics Gaucher Study: Multiomic Approach

Start: Oct 2022Est. completion: Dec 202525 patients
N/AActive Not Recruiting
NCT04997772SanofiDigital Gaucher Platform

Digital Health Platform Customized for Patients With Gaucher Disease

Start: Feb 2022Est. completion: Mar 202480 patients
N/ACompleted
NCT04429984TakedaPost Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in India

Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in India

Start: Jul 2021Est. completion: Apr 202321 patients
N/ACompleted
NCT04721366Takedavelaglucerase alfa

A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease

Start: Jan 2021Est. completion: Apr 202311 patients
N/ACompleted
NCT03333447Takedavelaglucerase alfa

Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa)

Start: Jan 2017Est. completion: Dec 201820 patients
N/ACompleted
NCT02785744SanofiGaucher disease DNA mutation analysis

Genzyme Osteopenia/Osteoporosis Study

Start: Apr 2016Est. completion: Sep 201976 patients
N/ACompleted
NCT04430881SanofiA National Study in Patients With Unexplained Splenomegaly

A National Study in Patients With Unexplained Splenomegaly

Start: Sep 2015Est. completion: Apr 2021506 patients
N/ACompleted
NCT03625882Takedavelaglucerase alfa

Survey Study for Velaglucerase Alfa (VPRIV) in Japan

Start: Sep 2014Est. completion: May 202463 patients
N/ACompleted
NCT01356537TakedaHome Therapy With VPRIV in Gaucher's Disease

Home Therapy With VPRIV in Gaucher's Disease

Start: May 2011Est. completion: Sep 201734 patients
N/ACompleted
NCT01344096SanofiThrombocytopathy in Gaucher Disease Patients

Thrombocytopathy in Gaucher Disease Patients

Start: Oct 2010Est. completion: Nov 201870 patients
N/AUnknown
NCT00358943SanofiInternational Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry

International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry

Start: Apr 1991Est. completion: Jan 203412,000 patients
N/ARecruiting

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Phase Legend

Preclinical— Lab & animal studies
Phase 1— Safety & dosing
Phase 2— Efficacy testing
Phase 3— Large-scale trials
On Market— Approved & available

Key Insights

6 late-stage (Phase 3) programs — potential near-term approvals
2 actively recruiting trials targeting 13,407 patients
6 companies competing in this space

Related Indications

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