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Gaucher Disease

Rare Diseases
10
Pipeline Programs
9
Companies
42
Clinical Trials
2 recruiting
1
Approved Products

Pipeline by Development Stage

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

Drug Modality Breakdown

Small Molecule
3100%
+ 26 programs with unclassified modality

Rare Diseases is a $21.9B market dominated by a single blockbuster (ELIQUIS), with moderate growth and high consolidation among top-tier pharma players.

$21.9B marketMature→ Stable30 products15 companies

Key Trends

  • Market concentration: One product (ELIQUIS) represents 83% of market spending
  • Complement inhibitors and enzyme replacement therapies gaining momentum
  • Active pipeline with 1,790 trials, predominantly Phase 2-3 stage

Career Verdict

Yes, if you seek stability and commercial opportunity with major pharma; proceed cautiously if you want pipeline upside or innovation-driven roles.

AI-generated market analysis based on FDA, CMS, ClinicalTrials.gov, and hiring data

Market Leaders

#1ELIQUISStable
$18.3B
Bristol Myers Squibb·LAUNCH15.0yr
#2XIFAXANDeclining
$1.1B
Bausch Health·LOE_APPROACHING
#3BRILINTAStable
$692M
AstraZeneca·PEAK10.2yr
#4TYVASO DPIStable
$437M
#5STRENSIQStable
$259M

Drug Class Breakdown

FXa Inhibitors (Anticoagulants)
$18.3B(83%)

Mature, patent-protected until 2041

Unknown Mechanism
$1.4B(6%)

Mixed—includes LOE-approaching products

P2Y12 Receptor Antagonists
$692M(3%)

Peak sales, LOE 2036

Prostaglandins/Vasodilators
$437M(2%)

Stable, long patent protection

Complement Inhibitors
$408M(2%)

Emerging class, no LOE data available

Enzyme Replacement Therapies
$40M(0%)

Niche market, specialized patient populations

Career Outlook

Stable

The rare disease market is stable but mature, with job growth concentrated in commercial and medical affairs rather than R&D innovation. Consolidation among top pharma (AstraZeneca, BMS, Amgen) limits opportunities for mid-tier companies, but specialist biotech firms show hiring momentum. Patent cliff risk for ELIQUIS (2041) will create restructuring opportunities and potential job flux in downstream years.

Breaking In

Target commercial or quality assurance roles at AstraZeneca, Capricor, or Amgen to build market knowledge; rare disease expertise is portable and valued across therapeutic areas.

For Experienced Professionals

Seek regulatory or medical affairs leadership roles where salary ceiling is highest ($243K-$257K); consider biotech firms like Insmed or Krystal for upside if pipeline approvals accelerate.

In-Demand Skills

Market access and HCP engagement (medical affairs)Regulatory and compliance expertisePatient stratification and genetic testing knowledgeCommercial analytics and lifecycle management

Best For

Medical Science Liaison (high salary, growing demand)Commercial Manager/Product Manager (39% of jobs)Regulatory Affairs Specialist (premium salary $257K)Health Economics & Outcomes Research (unmet need in data)

Hiring Landscape

$114K-$257K

Rare disease hiring is concentrated in commercial roles (75 jobs at $215K avg) and medical affairs (16 jobs at $243K avg), reflecting a mature market's focus on market access and HCP engagement. Top hiring companies include AstraZeneca (38 jobs) and emerging biotech players like Capricor Therapeutics (30 jobs). Department salaries range from $114K-$257K, with regulatory affairs commanding premium compensation.

195
Open Roles
5
Companies Hiring
5
Departments

Top Hiring Companies

38Growing
18Stable
17Growing
14Stable

By Department

Commercial(39%)
$215K
Medical Affairs(8%)
$243K
Research & Development(10%)
Regulatory Affairs(4%)
$257K
Quality Assurance(4%)
$168K

Commercial and regulatory roles offer strong salaries and growth; R&D hiring is minimal (10%), reflecting a consolidation and maturity phase in the market.

On Market (1)

Approved therapies currently available

Pfizer
ELELYSOApproved
taliglucerase alfa
Pfizer
Hydrolytic Lysosomal Glucocerebroside-specific Enzyme [EPC]intravenous2012
3M Part D

Competitive Landscape

8 companies ranked by most advanced pipeline stage

Pfizer
PfizerNEW YORK, NY
5 programs
2
2
imigluceraseAPPROVED_FOR_MARKETING1 trial
Taliglucerase alfaPhase 43 trials
Plant cell expressed recombinant glucocerebrosidasePhase 31 trial
Taliglucerase alfaPhase 31 trial
Plant cell expressed recombinant glucocerebrosidaseN/A1 trial
Active Trials
NCT00712348Completed31Est. May 2013
NCT00962260No Longer Available
NCT00376168Completed32Est. Oct 2009
+4 more trials
ISU Abxis
ISU AbxisKorea - Seongnam
4 programs
2
1
Cerezyme®Phase 31 trial
AbcertinPhase 11 trial
ISU302Phase 11 trial
A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseN/A1 trial
Active Trials
NCT02053896Completed5Est. Feb 2012
NCT04787887Completed42Est. Oct 2020
NCT01881633Completed24Est. Nov 2010
+1 more trials
UNION therapeutics
UNION therapeuticsDenmark - Hellerup
1 program
1
Eliglustat Tartrate CapsulesPhase 21 trial
Active Trials
NCT06523517Not Yet Recruiting5Est. Jul 2025
Prevail Therapeutics
1 program
1
LY3884961Phase 1/2
Sanofi
SanofiPARIS, France
11 programs
A National Study in Patients With Unexplained SplenomegalyN/A1 trial
Digital Gaucher PlatformN/A1 trial
Gaucher disease DNA mutation analysisN/A1 trial
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registryN/A1 trial
Investigational procedureN/A1 trial
+6 more programs
Active Trials
NCT04430881Completed506Est. Apr 2021
NCT04997772Completed80Est. Mar 2024
NCT02785744Completed76Est. Sep 2019
+10 more trials
Takeda
TakedaTOKYO, Japan
5 programs
Home Therapy With VPRIV in Gaucher's DiseaseN/A1 trial
Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in IndiaN/A1 trial
GA-GCBPHASE_2_32 trials
velaglucerase alfaPHASE_35 trials
Digital Engagement ApplicationPHASE_41 trial
Active Trials
NCT01356537Completed34Est. Sep 2017
NCT04429984Completed21Est. Apr 2023
NCT00478647Completed40Est. Jun 2009
+7 more trials
CENTOGENE
CENTOGENEGermany - Rostock
1 program
Genetic testing and Omics analysisN/A1 trial
Active Trials
NCT05526664Active Not Recruiting25Est. Dec 2025
Eli Lilly and Company
Eli Lilly and CompanyINDIANAPOLIS, IN
1 program
LY3884961PHASE_1_21 trial
Active Trials
NCT05487599Recruiting15Est. Nov 2031

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
ISU AbxisCerezyme®
Sanofieliglustat
Pfizerimiglucerase
PfizerTaliglucerase alfa
Takedavelaglucerase alfa
PfizerPlant cell expressed recombinant glucocerebrosidase

Showing 15 of 40 trials with date data

Clinical Trials (42)

Total enrollment: 13,687 patients across 42 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

The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease

Start: Jan 20110
Phase 3Withdrawn

A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)

Start: Jun 2010Est. completion: Oct 2015170 patients
Phase 3Completed
NCT00712348Pfizerimiglucerase

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
NCT00376168PfizerPlant cell expressed recombinant glucocerebrosidase

A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease

Start: Aug 2007Est. completion: Oct 200932 patients
Phase 3Completed

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
NCT06523517UNION therapeuticsEliglustat Tartrate Capsules

Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3

Start: Aug 2024Est. completion: Jul 20255 patients
Phase 2Not Yet Recruiting

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

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

A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers

Start: Jan 2020Est. completion: Oct 202042 patients
Phase 1Completed

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

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

Taste Evaluation of Different Liquid Formulations With Eliglustat

Start: Apr 2015Est. completion: May 20158 patients
Phase 1Completed

A Phase I Study of the Pharmacokinetic Variability and Relative Bioavailability of the Phase 3 and Common Blend Formulations of Eliglustat in Healthy Adult Subjects

Start: Oct 2011Est. completion: Nov 201122 patients
Phase 1Completed

A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers

Start: Oct 2010Est. completion: Nov 201024 patients
Phase 1Completed
NCT00954460Takedavelaglucerase alfa

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

N/AApproved For Marketing
NCT00962260PfizerPlant cell expressed recombinant glucocerebrosidase

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

N/ANo Longer Available
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
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
NCT02053896ISU AbxisA Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease

A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease

Start: May 2011Est. completion: Feb 20125 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

Related Jobs in Rare Diseases

Phase Legend

PreclinicalLab & animal studies
Phase 1Safety & dosing
Phase 2Efficacy testing
Phase 3Large-scale trials
On MarketApproved & available

Key Insights

3 late-stage (Phase 3) programs, potential near-term approvals
2 actively recruiting trials targeting 13,687 patients
9 companies competing in this space

The information on this page is for informational purposes only and should not be used as a substitute for professional medical advice. Drug information is sourced from FDA, DailyMed, and other government databases. Adverse event data from FAERS does not establish causation. Always consult a healthcare professional for medical decisions.