Skip to main content

Pompe Disease

Rare Diseases
11
Pipeline Programs
7
Companies
22
Clinical Trials
4 recruiting
3
Approved Products

Pipeline by Development Stage

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

Drug Modality Breakdown

Small Molecule
2100%
+ 14 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 (3)

Approved therapies currently available

Amicus Therapeutics
MIGLUSTATApproved
miglustat
Amicus Therapeutics
Glucosylceramide Synthase Inhibitor [EPC]oral2025
542K Part D
Amicus Therapeutics
POMBILITIApproved
cipaglucosidase alfa-atga
Amicus Therapeutics
injection2023
Amicus Therapeutics
OPFOLDAApproved
miglustat
Amicus Therapeutics
Glucosylceramide Synthase Inhibitor [EPC]oral2023

Competitive Landscape

7 companies ranked by most advanced pipeline stage

Amicus Therapeutics
Amicus TherapeuticsPA - Philadelphia
6 programs
1
1
3
1
AT2221Phase 34 trials
POMBILITI(cipaglucosidase alfa)Phase 34 trials
MIGLUSTAT(miglustat)Phase 3Small Molecule
duvoglustatPhase 2Small Molecule2 trials
Zavesca® PrescriptionPhase 11 trial
+1 more programs
Active Trials
NCT00515398Completed30Est. Jan 2008
NCT02185651Terminated2Est. Jul 2018
NCT01380743Completed25Est. Jan 2013
+9 more trials
Shionogi
ShionogiJapan - Osaka
1 program
1
S-606001Phase 21 trial
Active Trials
NCT07123155Recruiting45Est. Aug 2027
SPARK Biopharma
SPARK BiopharmaKorea - Seoul
2 programs
1
SPK-3006Phase 1/21 trial
Neutralizing Antibody to SPK-3006 capsidN/A1 trial
Active Trials
NCT03893240Completed61Est. Oct 2020
NCT04093349Active Not Recruiting4Est. Apr 2032
AskBio
AskBioNC - Durham
1 program
1
AAV2/8-LSPhGAAPhase 11 trial
Active Trials
NCT03533673Completed7Est. Mar 2026
Sanofi
SanofiPARIS, France
3 programs
Cognitive and Neurological Pathologies in Pompe DiseaseN/A1 trial
Investigating Pompe Prevalence in Neuromuscular Medicine Academic PracticesN/A1 trial
recombinant human acid alpha-glucosidasePHASE_21 trial
Active Trials
NCT04639336Recruiting45Est. Mar 2029
NCT02838368Completed921Est. Dec 2018
NCT00025896Completed8Est. Sep 2002
BioMarin Pharmaceutical
2 programs
BMN 701PHASE_1_21 trial
BMN 701PHASE_21 trial
Active Trials
NCT01230801Completed22Est. Mar 2013
NCT01435772Terminated21Est. Sep 2016
Human BioSciences
Human BioSciencesWV - Martinsburg
1 program
Diaphragm conditioning via phrenic nerve stimulationN/A1 trial
Active Trials
NCT02354651Completed9Est. Jan 2023

Trial Timeline

Clinical trial activity over time

2021
2022
2023
2024
2025
2026
2027
2028
2029
2030
2031
Amicus Therapeuticscipaglucosidase alfa
Amicus Therapeuticscipaglucosidase alfa
Amicus TherapeuticsAT2221
Amicus Therapeuticscipaglucosidase alfa
ShionogiS-606001
Amicus Therapeuticsduvoglustat
BioMarin PharmaceuticalBMN 701
Amicus Therapeuticsduvoglustat
Sanofirecombinant human acid alpha-glucosidase
SPARK BiopharmaSPK-3006
Amicus TherapeuticsAT2221
BioMarin PharmaceuticalBMN 701
AskBioAAV2/8-LSPhGAA
Amicus TherapeuticsZavesca® Prescription
Amicus Therapeuticscipaglucosidase alfa

Showing 15 of 20 trials with date data

Clinical Trials (22)

Total enrollment: 2,033 patients across 22 trials

NCT04808505Amicus Therapeuticscipaglucosidase alfa

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18

Start: Jul 2023Est. completion: Jul 202736 patients
Phase 3Recruiting
NCT03911505Amicus Therapeuticscipaglucosidase alfa

ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD

Start: Feb 2020Est. completion: Jun 202621 patients
Phase 3Active Not Recruiting

A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD)

Start: Dec 2019Est. completion: Dec 2024119 patients
Phase 3Completed
NCT03729362Amicus Therapeuticscipaglucosidase alfa

A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease

Start: Dec 2018Est. completion: Jan 2021125 patients
Phase 3Completed

Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)

Start: Oct 2025Est. completion: Aug 202745 patients
Phase 2Recruiting

Drug-drug Interaction Study

Start: Oct 2011Est. completion: Jan 201325 patients
Phase 2Completed

Extension Study for Patients Who Have Participated in a BMN 701 Study

Start: Aug 2011Est. completion: Sep 201621 patients
Phase 2Terminated

Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease

Start: Dec 2008Est. completion: Dec 20093 patients
Phase 2Terminated
NCT00025896Sanofirecombinant human acid alpha-glucosidase

Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease

Start: May 2001Est. completion: Sep 20028 patients
Phase 2Completed

A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)

Start: Oct 2020Est. completion: Apr 20324 patients
Phase 1/2Active Not Recruiting

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

Start: Apr 2016Est. completion: Aug 202429 patients
Phase 1/2Completed

Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease

Start: Jan 2011Est. completion: Mar 201322 patients
Phase 1/2Completed
NCT03533673AskBioAAV2/8-LSPhGAA

AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease

Start: Dec 2018Est. completion: Mar 20267 patients
Phase 1Completed
NCT02185651Amicus TherapeuticsZavesca® Prescription

A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction

Start: Oct 2016Est. completion: Jul 20182 patients
Phase 1Terminated

Expanded Access for ATB200/AT2221 for the Treatment of IOPD

N/AAvailable

Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease

N/AAvailable
NCT06121011Amicus Therapeuticscipaglucosidase alfa

A Global Prospective Observational Registry of Patients With Pompe Disease

Start: Feb 2024Est. completion: Dec 2034500 patients
N/ARecruiting
NCT03893240SPARK BiopharmaNeutralizing Antibody to SPK-3006 capsid

Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

Start: Jun 2019Est. completion: Oct 202061 patients
N/ACompleted
NCT04639336SanofiCognitive and Neurological Pathologies in Pompe Disease

Cognitive and Neurological Pathologies in Pompe Disease

Start: Aug 2016Est. completion: Mar 202945 patients
N/ARecruiting
NCT02838368SanofiInvestigating Pompe Prevalence in Neuromuscular Medicine Academic Practices

Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices

Start: Jul 2015Est. completion: Dec 2018921 patients
N/ACompleted
NCT02354651Human BioSciencesDiaphragm conditioning via phrenic nerve stimulation

Response to Diaphragmatic Pacing in Subjects With Pompe Disease

Start: May 2013Est. completion: Jan 20239 patients
N/ACompleted

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

Start: Aug 2007Est. completion: Jan 200830 patients
N/ACompleted

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
4 actively recruiting trials targeting 2,033 patients
7 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.