Pompe Disease

Rare Diseases
8
Pipeline Programs
4
Companies
13
Clinical Trials
2 recruiting
0
Approved Products

Pipeline by Development Stage

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

Drug Modality Breakdown

Small Molecule
2100%
+ 11 programs with unclassified modality

Competitive Landscape

4 companies ranked by most advanced pipeline stage

Amicus Therapeutics
Amicus TherapeuticsPA - Philadelphia
7 programs
1
1
2
DuvoglustatPhase 2Small Molecule1 trial
duvoglustatPhase 2Small Molecule1 trial
ATB200Phase 1/21 trial
Zavesca® PrescriptionPhase 11 trial
ATB200N/A1 trial
+2 more programs
Active Trials
NCT03865836Available
NCT06121011RecruitingEst. Dec 2034
NCT00515398CompletedEst. Jan 2008
+4 more trials
Sanofi
SanofiPARIS, France
3 programs
1
recombinant human acid alpha-glucosidasePhase 21 trial
Cognitive and Neurological Pathologies in Pompe DiseaseN/A1 trial
Investigating Pompe Prevalence in Neuromuscular Medicine Academic PracticesN/A1 trial
Active Trials
NCT04639336Recruiting45Est. Mar 2029
NCT02838368Completed921Est. Dec 2018
NCT00025896Completed8Est. Sep 2002
BioMarin Pharmaceutical
2 programs
1
1
BMN 701Phase 21 trial
BMN 701Phase 1/21 trial
Active Trials
NCT01230801Completed22Est. Mar 2013
NCT01435772Terminated21Est. Sep 2016
AskBio
AskBioNC - Durham
1 program
1
ACTUS-101Phase 11 trial
Active Trials
NCT03533673Active Not Recruiting7Est. Mar 2026

Trial Timeline

Clinical trial activity over time

2021
2022
2023
2024
2025
2026
2027
2028
2029
2030
2031
Amicus Therapeuticsduvoglustat
BioMarin PharmaceuticalBMN 701
Amicus TherapeuticsDuvoglustat
Sanofirecombinant human acid alpha-glucosidase
Amicus TherapeuticsATB200
BioMarin PharmaceuticalBMN 701
AskBioACTUS-101
Amicus TherapeuticsZavesca® Prescription
Amicus TherapeuticsCipaglucosidase alfa
SanofiCognitive and Neurological Pathologies in Pompe Disease
SanofiInvestigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Amicus TherapeuticsObservation

Clinical Trials (13)

Total enrollment: 1,024 patients across 13 trials

NCT01380743Amicus Therapeuticsduvoglustat

Drug-drug Interaction Study

Start: Oct 2011Est. completion: Jan 2013
Phase 2Completed
NCT01435772BioMarin PharmaceuticalBMN 701

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

Start: Aug 2011Est. completion: Sep 201621 patients
Phase 2Terminated
NCT00688597Amicus TherapeuticsDuvoglustat

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

Start: Dec 2008Est. completion: Dec 2009
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
NCT02675465Amicus TherapeuticsATB200

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 2024
Phase 1/2Completed
NCT01230801BioMarin PharmaceuticalBMN 701

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
NCT03533673AskBioACTUS-101

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

Start: Dec 2018Est. completion: Mar 20267 patients
Phase 1Active Not Recruiting
NCT02185651Amicus TherapeuticsZavesca® Prescription

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

Start: Oct 2016Est. completion: Jul 2018
Phase 1Terminated
NCT03865836Amicus TherapeuticsATB200

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 2034
N/ARecruiting
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
NCT00515398Amicus TherapeuticsObservation

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

Start: Aug 2007Est. completion: Jan 2008
N/ACompleted

Related Jobs in Rare Diseases

Manager, Gene Therapy Operations (GTO)

Genetix Biotherapeutics
7h ago
From $130K/yr

Manager, Gene Therapy Operations (GTO)

Genetix Biotherapeutics
Somerville, Massachusetts, United States
8h ago

Medical Engagement Manager – Diamyd Medical

Bonesupport
Stockholm, Sweden
Yesterday

Exec. Director, Global Patient Engagement

BioCryst Pharmaceuticals
US_North Carolina_Headquarters
Yesterday

Sr. Director, Regulatory CMC

Genetix Biotherapeutics
Somerville, MA
4d ago
From $270K/yr

Associate Director, Quality Systems

Genetix Biotherapeutics
Somerville, Massachusetts
4d ago
From $165K/yr

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

2 actively recruiting trials targeting 1,024 patients
4 companies competing in this space

Related Indications

Cystic Fibrosis(244)Hemophilia A(139)Sickle Cell Disease(64)Fabry Disease(55)Duchenne Muscular Dystrophy(53)Hemophilia B(47)Spinal Muscular Atrophy(34)Phenylketonuria(32)Gaucher Disease(29)Severe Hemophilia A(26)