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Fabry Disease

Rare Diseases
25
Pipeline Programs
25
Companies
50
Clinical Trials
6 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
7
1
2
10
2
Early DiscoveryClinical DevelopmentMarket

Drug Modality Breakdown

Small Molecule
5100%
+ 52 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 (2)

Approved therapies currently available

Amicus Therapeutics
GALAFOLDApproved
migalastat hydrochloride
Amicus Therapeutics
oral2018
35M Part D
Chiesi
ELFABRIOApproved
pegunigalsidase alfa
Chiesi
Hydrolytic Lysosomal Neutral Glycosphingolipid-specific Enzyme [EPC]single-use2023
470K Part D

Competitive Landscape

21 companies ranked by most advanced pipeline stage

Chiesi
ChiesiBrazil - Santana de Parnaíba
14 programs
2
2
5
1
PRX-102Phase 31 trial
PRX-102Phase 31 trial
Pegunigalsidase alfaPhase 31 trial
pegunigalsidase alfaPhase 31 trial
pegunigalsidase alfaPhase 31 trial
+9 more programs
Active Trials
NCT04916977Completed200Est. Jun 2022
NCT04552691Approved For Marketing
NCT06095713Active Not Recruiting60Est. Sep 2027
+11 more trials
Amicus Therapeutics
Amicus TherapeuticsPA - Philadelphia
6 programs
1
1
1
GALAFOLD(migalastat)Phase 3Small Molecule5 trials
GR181413A/AT1001 solutionPhase 11 trial
Enzyme Replacement TherapyN/A1 trial
Real World Evidence Study of Danish Fabry PatientsN/A1 trial
This is a non-interventional studyN/A1 trial
+1 more programs
Active Trials
NCT04281537Completed82Est. May 2022
NCT06303466Unknown115Est. Dec 2024
NCT04804566Completed44Est. Nov 2023
+7 more trials
Idorsia
IdorsiaSwitzerland - Allschwil
3 programs
1
2
LucerastatPhase 3Small Molecule1 trial
LucerastatPhase 3Small Molecule1 trial
LucerastatPhase 1Small Molecule1 trial
Active Trials
NCT02930655Completed14Est. Feb 2016
NCT03737214Active Not Recruiting107Est. Nov 2029
NCT03425539Completed118Est. Sep 2021
Biocorp
BiocorpFrance - Issoire
2 programs
1
1
Recombinant human alpha galactosidase APhase 3
Agalsidase beta from Biosidus 1 mg/kgPhase 11 trial
Active Trials
NCT05343715Completed24Est. Apr 2022
ISU Abxis
ISU AbxisKorea - Seongnam
1 program
1
Fabagal®Phase 31 trial
Active Trials
NCT06081062Recruiting24Est. Dec 2025
AceLink Therapeutics
1 program
1
AL01211Phase 22 trials
Active Trials
NCT06114329Recruiting16Est. Jun 2026
NCT04908462Completed69Est. Jun 2022
Sangamo Therapeutics
2 programs
1
ST-920Phase 1/21 trial
ST-920N/A1 trial
Active Trials
NCT05039866Enrolling By Invitation48Est. Mar 2039
NCT04046224Completed36Est. Apr 2025
Spur Therapeutics
Spur TherapeuticsUK - Stevenage
2 programs
2
FLT190Phase 1/21 trial
FLT190Phase 1/21 trial
Active Trials
NCT04040049Terminated3Est. May 2023
NCT04455230Completed3Est. Sep 2023
4D Molecular Therapeutics
1 program
1
4D-310Phase 1/22 trials
Active Trials
NCT05629559Recruiting18Est. Jun 2030
NCT04519749Active Not Recruiting18Est. Jun 2030
uniQure
uniQureNetherlands - Amsterdam
1 program
1
AMT-191Phase 1/21 trial
Active Trials
NCT06270316Recruiting12Est. Apr 2031
Sanofi
SanofiPARIS, France
9 programs
26 common Fabry mutation types in TaiwanN/A1 trial
Fabry Disease Registry & Pregnancy Sub-registryN/A1 trial
Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY DiseaseN/A1 trial
Fluorescein angiographyN/A1 trial
GLA geneN/A1 trial
+4 more programs
Active Trials
NCT02859363Unknown700Est. Aug 2017
NCT00196742Recruiting9,000Est. Jan 2034
NCT06325488Recruiting60Est. Jun 2026
+11 more trials
Takeda
TakedaTOKYO, Japan
4 programs
ReplagalPHASE_25 trials
REPLAGALPHASE_31 trial
agalsidase alfaPHASE_31 trial
ReplagalPHASE_41 trial
Active Trials
NCT01031173No Longer Available
NCT04974749Completed20Est. Jan 2024
NCT01304277Completed17Est. Dec 2012
+5 more trials
Alliance Pharmaceuticals
3 programs
Implantable Loop RecorderN/A1 trial
MigalastatN/ASmall Molecule1 trial
T1 mappingN/A1 trial
Active Trials
NCT03305250Active Not Recruiting169Est. Jul 2027
NCT03949920Unknown21Est. Dec 2023
NCT04708301Completed200Est. Dec 2020
Chiesi USA
Chiesi USANC - Cary
1 program
Pegunigalsidase AlfaN/A
Rare Disease Therapeutics
1 program
Podocyturia - Predictor of Renal Dysfunction in Fabry NephropathyN/A1 trial
Active Trials
NCT02994303Unknown58Est. Aug 2019
UNION therapeutics
UNION therapeuticsDenmark - Hellerup
1 program
Screening for Fabry diseaseN/A1 trial
Active Trials
NCT04965467Withdrawn0Est. Feb 2022
Pfizer
PfizerNEW YORK, NY
1 program
Shear-wave elastographyN/A1 trial
Active Trials
NCT04893889Unknown60Est. Mar 2022
CENTOGENE
CENTOGENEGermany - Rostock
1 program
The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement N/A1 trial
Active Trials
NCT01268241Completed200Est. Apr 2016
GC Biopharma
GC BiopharmaKorea - Yongin
1 program
GC1119PHASE_11 trial
Active Trials
NCT01653444Completed8Est. Oct 2015
ResVerlogiX
ResVerlogiXAB - Calgary
1 program
RVX000222PHASE_1_21 trial
Active Trials
NCT03228940Withdrawn0Est. Nov 2022
IQVIA
IQVIADURHAM, NC
1 program
Recombinant human alpha galactosidase APHASE_31 trial
Active Trials
NCT05843916Completed20Est. Mar 2025

Trial Timeline

Clinical trial activity over time

2021
2022
2023
2024
2025
2026
2027
2028
2029
2030
2031
SanofiAgalsidase beta
TakedaReplagal
SanofiAgalsidase beta
SanofiAgalsidase beta
SanofiAgalsidase beta
SanofiAgalsidase beta
SanofiAgalsidase beta
SanofiAgalsidase beta
SanofiAgalsidase beta
SanofiAgalsidase beta
Amicus Therapeuticsmigalastat
ISU AbxisFabagal®
IQVIARecombinant human alpha galactosidase A
Amicus Therapeuticsmigalastat
SanofiAgalsidase beta

Showing 15 of 50 trials with date data

Clinical Trials (50)

Total enrollment: 1,794 patients across 50 trials

NCT06019728SanofiAgalsidase beta

A Prospective Study to Investigate Safety and Tolerability of Shorter Infusion of Fabrazyme

Start: Nov 2023Est. completion: Oct 20248 patients
Phase 4Completed

A Study of Replagal in Children and Adults With Fabry Disease in India

Start: Nov 2022Est. completion: Nov 20265 patients
Phase 4Recruiting
NCT05054387SanofiAgalsidase beta

China Post-marketing Surveillance (PMS) Study of Fabrazyme®

Start: Oct 2021Est. completion: Mar 202322 patients
Phase 4Completed
NCT04143958SanofiAgalsidase beta

To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease

Start: Sep 2020Est. completion: Nov 20230
Phase 4Withdrawn
NCT01650779SanofiAgalsidase beta

A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta

Start: Apr 2012Est. completion: Mar 201315 patients
Phase 4Completed
NCT00230607SanofiAgalsidase beta

Study of the Effects of Fabrazyme Treatment on Lactation and Infants

Start: May 2006Est. completion: Feb 20247 patients
Phase 4Terminated
NCT00312767SanofiAgalsidase beta

A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.

Start: Apr 20060
Phase 4Withdrawn
NCT00140621SanofiAgalsidase beta

A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease

Start: Jul 2005Est. completion: Aug 20126 patients
Phase 4Completed
NCT00081497SanofiAgalsidase beta

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

Start: Jan 2004Est. completion: Sep 200567 patients
Phase 4Completed
NCT00074984SanofiAgalsidase beta

A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease

Start: Feb 2001Est. completion: Jan 200482 patients
Phase 4Completed

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants

Start: Jan 2026Est. completion: Dec 20288 patients
Phase 3Recruiting

Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease

Start: Apr 2023Est. completion: Dec 202524 patients
Phase 3Recruiting
NCT05843916IQVIARecombinant human alpha galactosidase A

Switch Over Study of Biosimilar Agalsidase Beta for Fabry Disease

Start: Dec 2022Est. completion: Mar 202520 patients
Phase 3Completed

A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease

Start: Oct 2022Est. completion: Dec 202614 patients
Phase 3Active Not Recruiting
NCT05280548SanofiAgalsidase beta

A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease

Start: May 2022Est. completion: Dec 2027104 patients
Phase 3Active Not Recruiting

A Study of REPLAGAL® in Treatment-naive Chinese Participants With Fabry Disease

Start: May 2022Est. completion: Jan 202420 patients
Phase 3Completed

A Study of Replagal in Treatment-naïve Adults With Fabry Disease

Start: Dec 2021Est. completion: Dec 202217 patients
Phase 3Terminated

Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease

Start: Oct 2019Est. completion: Nov 202416 patients
Phase 3Completed

A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease

Start: Dec 2018Est. completion: Nov 2029107 patients
Phase 3Active Not Recruiting
NCT03614234Chiesipegunigalsidase alfa

Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients

Start: Nov 2018Est. completion: Jun 202629 patients
Phase 3Active Not Recruiting

Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)

Start: Sep 2018Est. completion: Feb 202122 patients
Phase 3Completed
NCT03566017Chiesipegunigalsidase alfa

Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease

Start: Sep 2018Est. completion: Jan 202597 patients
Phase 3Completed

Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease

Start: Jun 2018Est. completion: Sep 2021118 patients
Phase 3Completed
NCT03180840ChiesiPegunigalsidase alfa

Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks

Start: Jul 2017Est. completion: Aug 202030 patients
Phase 3Completed

Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)

Start: May 2017Est. completion: Jan 202022 patients
Phase 3Completed

Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function

Start: Jun 2016Est. completion: Jul 202278 patients
Phase 3Completed

Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease

Start: Mar 2015Est. completion: Oct 201984 patients
Phase 3Completed

Open-Label Phase 3 Long-Term Safety Study of Migalastat

Start: Oct 2011Est. completion: Feb 201685 patients
Phase 3Terminated

Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease

Start: Sep 2011Est. completion: May 201568 patients
Phase 3Completed
NCT01298141Takedaagalsidase alfa

A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease

Start: Aug 2011Est. completion: Sep 2017171 patients
Phase 3Completed

Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease

Start: Apr 2010Est. completion: Jul 201335 patients
Phase 3Completed

Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease

Start: Oct 2009Est. completion: Jan 201467 patients
Phase 3Completed

Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease

Start: Dec 2008Est. completion: Jul 201244 patients
Phase 3Completed
NCT00701415SanofiAgalsidase beta

A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms

Start: Sep 2008Est. completion: Jun 201531 patients
Phase 3Completed
NCT00074971SanofiAgalsidase beta

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

Start: Oct 1999Est. completion: Dec 200458 patients
Phase 3Completed
NCT06328608ChiesiPRX-102 1 mg/kg every two weeks

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease

Start: Jul 2025Est. completion: Apr 203122 patients
Phase 2/3Recruiting
NCT05710692ChiesiPRX-102 1 mg/kg every 2 weeks

Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease

Start: Aug 2023Est. completion: Aug 202916 patients
Phase 2/3Recruiting

Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease

Start: Oct 2023Est. completion: Jun 202616 patients
Phase 2Recruiting
NCT02489344SanofiGZ/SAR402671

Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease

Start: Jul 2015Est. completion: Nov 20188 patients
Phase 2Completed
NCT02228460SanofiGZ/SAR402671

Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease

Start: Nov 2014Est. completion: Sep 201611 patients
Phase 2Completed

This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.

Start: Nov 2011Est. completion: Dec 201217 patients
Phase 2Completed

Safety Study of Replagal® Therapy in Children With Fabry Disease

Start: May 2011Est. completion: Apr 201315 patients
Phase 2Completed

Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease

Start: Feb 2011Est. completion: Oct 201220 patients
Phase 2Completed

Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study

Start: Sep 2007Est. completion: Sep 201223 patients
Phase 2Terminated

A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease

Start: Sep 2006Est. completion: May 20089 patients
Phase 2Completed

A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease

Start: Jun 2006Est. completion: May 20084 patients
Phase 2Completed

A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease

Start: May 2006Est. completion: Mar 20085 patients
Phase 2Completed

A Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease

Start: Jan 2006Est. completion: Jan 20089 patients
Phase 2Completed

Replagal Enzyme Replacement Therapy for Children With Fabry Disease

Start: Jun 2004Est. completion: Jun 201117 patients
Phase 2Completed
NCT00196716SanofiAgalsidase beta

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

Start: Jun 2003Est. completion: Mar 200721 patients
Phase 2Completed

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

10 late-stage (Phase 3) programs, potential near-term approvals
6 actively recruiting trials targeting 1,794 patients
25 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.