Fabry disease

Last reviewed

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ORPHA:324OMIM:301500E75.2
Who is this for?
Show terms as
4FDA treatments46Active trials80Specialists8Treatment centers15Financial resources

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Fabry Disease is treated with 4 medications in our database, including Galafold, ELFABRIO, Zavesca, Fabrazyme. 2 of these have manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Amicus, Chiesi, Actelion, Sanofi. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Fabry Disease treatment below.

Also known as:

Clinical phenotype terms— hover any for plain English:

Conjunctival telangiectasiaHP:0000524AngiokeratomaHP:0001014Transient ischemic attackHP:0002326Abnormal glycosphingolipid metabolismHP:0004343
Inheritance

X-linked recessive

Carried on the X chromosome; typically affects males more than females

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

10 events
Apr 2026Care Pathway for Patients With Fabry's Disease (Fabry-PATH)

University Hospital, Toulouse

TrialNOT YET RECRUITING
Apr 2026Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting

Chiesi Italia

TrialNOT YET RECRUITING
Feb 2026A Study of Patients With Fabry Disease (US Specific)

Amicus Therapeutics

TrialRECRUITING
Jan 2026A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants

Amicus Therapeutics — PHASE3

TrialRECRUITING
Jan 2026Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease

Núcleo de Apoio à Investigação Clínica - FMUP

TrialNOT YET RECRUITING
Nov 2025Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study

Yonsei University

TrialRECRUITING
Nov 2025A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease

Takeda — NA

TrialRECRUITING
Oct 2025Anderson-Fabry Disease Fitness Improvement Training: A-FAD-FIT

General University Hospital, Prague — NA

TrialENROLLING BY INVITATION
Jul 2025A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease

Chiesi Farmaceutici S.p.A. — PHASE2, PHASE3

TrialRECRUITING
Jun 2025Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes

IRCCS Azienda Ospedaliero-Universitaria di Bologna — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

4 available

ELFABRIO

PEGUNIGALSIDASE ALFA· Chiesi USA, Inc.■ Boxed WarningOrphan Drug
1 INDICATIONS AND USAGE ELFABRIO is indicated for the treatment of adults with confirmed Fabry disease. ELFABRIO is a hydrolytic lysosomal neutral glycosphingolipid-specific enzyme indicated for the t

1 INDICATIONS AND USAGE ELFABRIO is indicated for the treatment of adults with confirmed Fabry disease. ELFABRIO is a hydrolytic lysosomal neutral glycosphingolipid-specific enzyme indicated for the treatment of adults with confirmed Fabry disease. ( 1 )

Fabrazyme

AGALSIDASE BETA· Genzyme Corporation■ Boxed WarningOrphan Drug
1 INDICATIONS AND USAGE FABRAZYME ® is indicated for the treatment of adult and pediatric patients 2 years of age and older with confirmed Fabry disease. FABRAZYME is a hydrolytic lysosomal neutral gl

1 INDICATIONS AND USAGE FABRAZYME ® is indicated for the treatment of adult and pediatric patients 2 years of age and older with confirmed Fabry disease. FABRAZYME is a hydrolytic lysosomal neutral glycosphingolipid-specific enzyme indicated for the treatment of adult and pediatric patients 2 years of age and older with confirmed Fabry disease. ( 1 )

Galafold

MIGALASTAT HYDROCHLORIDE· Amicus Therapeutics US, LLCOrphan Drug
1 INDICATIONS AND USAGE GALAFOLD is indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene ( GLA ) variant based on in vitro assay d

1 INDICATIONS AND USAGE GALAFOLD is indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene ( GLA ) variant based on in vitro assay data [see Dosage and Administration (2.1) and Clinical Pharmacology (12.1) ] . This indication is approved under accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate [see Clinical Studies (14) ] . Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials. GALAFOLD is an alpha-galactosidase A (alpha-Gal A) pharmacological chaperone indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene ( GLA ) variant based on in vitro assay data. ( 1 , 12.1 ) This indication is approved under accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials. ( 1 )

Zavesca

miglustat· Actelion

Detailed copay and financial assistance information is not publicly available for this medication at this time. Please consult your pharmacist or the manufacturer's official patient support program fo

Clinical Trials

20 recruitingView all trials with filters →
Phase 37 trials
Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease
Phase 3
Actively Recruiting
· Sites: Manila; Manila +1 more · Age: 899 yrs
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
Phase 3
Actively Recruiting
· Sites: Atlanta, Georgia; Cincinnati, Ohio +7 more · Age: 211 yrs
A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease
Phase 3
Active Prior treatment eligible
PI: Clinical Sciences & Operations (Sanofi) · Sites: Birmingham, Alabama; Los Angeles, California +18 more · Age: 1699 yrs
Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients
Phase 3
Active
· Sites: Birmingham, Alabama; Atlanta, Georgia +12 more · Age: 1899 yrs
A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
Phase 3
Active
PI: Clinical Sciences & Operations Clinical Sciences and Operations (Sanofi) · Sites: Birmingham, Alabama; Los Angeles, California +18 more · Age: 1865 yrs
A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease
Phase 3
Active
PI: Clinical Trials (Idorsia Pharmaceuticals Ltd.) · Sites: Birmingham, Alabama; Irvine, California +40 more · Age: 1899 yrs
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
Phase 3
Active
PI: Clinical Research (Amicus Therapeutics) · Sites: Atlanta, Georgia; Cleveland, Ohio +10 more · Age: 1899 yrs
Phase 41 trial
A Study of Replagal in Children and Adults With Fabry Disease in India
Phase 4
Actively Recruiting
PI: Study Director (Takeda) · Sites: Kolkata; New Delhi +1 more
Other12 trials
A Study of Patients With Fabry Disease (US Specific)
Actively Recruiting
PI: Clinical Research (Amicus Therapeutics) · Sites: Birmingham, Alabama; Little Rock, Arkansas +5 more · Age: 1899 yrs
Cardiovascular Multimodality Imaging Study
Actively Recruiting
PI: Leandro Slipczuk, MD, PhD (Montefiore Medical Center) · Sites: The Bronx, New York · Age: 1899 yrs
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
Actively Recruiting
· Sites: Birmingham, Alabama; Atlanta, Georgia +8 more · Age: 1899 yrs
Long-Term Follow-up of Subjects Who Were Treated With ST-920
Enrolling by Invitation
PI: Medical Monitor (Sangamo Therapeutics, Inc.) · Sites: Irvine, California; Tampa, Florida +11 more · Age: 1899 yrs
Canadian Fabry Disease Initiative (CFDI) National Registry
Actively Recruiting
PI: Michael L West, MD (Queen Elizabeth II Health Sciences Centre (Capital) · Sites: Calgary, Alberta; Vancouver, British Columbia +3 more · Age: 585 yrs
Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
Actively Recruiting
· Sites: Washington D.C., District of Columbia; Berlin +3 more
Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
Actively Recruiting
PI: Chet Whitley, MD (University of Minnesota) · Sites: Minneapolis, Minnesota; Minneapolis, Minnesota · Age: 175 yrs
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
Actively Recruiting
· Sites: Philadelphia, Pennsylvania
Functional Capacity in Anderson-Fabry Disease Patients
Actively Recruiting
· Sites: Brescia, Brescia; Milan, Milan +3 more
Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study
Actively Recruiting
· Sites: Seoul · Age: 1575 yrs
Evaluation of HEArt invoLvement in Patients With FABRY Disease
Actively Recruiting
PI: Peter Nordbeck, MD, PhD (Wuerzburg University Hospital) · Sites: Würzburg, Bavaria · Age: 1899 yrs
Efficacy and Safety of Enzyme Replacement Therapy in Patients With Fabry Disease
Enrolling by Invitation
PI: Sergey V. Moiseev, MD (Sechenov First Moscow State Medical University (Se) · Sites: Astrakhan; Barnaul +21 more · Age: 865 yrs

Specialists

Showing 25 of 80View all specialists →
KH
Kate Hanneman
Toronto, Ontario
Specialist

Rare Disease Specialist

22 Fabry disease publications
WC
Wei-Li Chen
WASHINGTON, DC
Specialist
PI on 2 active trials593 Fabry disease publications
CP
Caroline Kistorp, Professor
Copenhagen
Specialist

Rare Disease Specialist

RD
Roman Günthner, PD Dr.
München, Bavaria
Specialist

Rare Disease Specialist

PI on 1 active trial
CH
Charles Jia-Yin Hou
Taipei
Specialist

Rare Disease Specialist

36 Fabry disease publications
CP
Caroline M Kistorp, MD, Ph.D
Copenhagen
Specialist

Rare Disease Specialist

EP
Eva Brand, MD, PhD
Berlin
Specialist

Rare Disease Specialist

JP
Jianhua Mao, PhD
Shanghai, Shanghai Municipality
Specialist

Rare Disease Specialist

PI on 3 active trials
EM
eleonora riccio, md
Specialist
PI on 2 active trials
AM
Antonio Pisani, MD
ROCHESTER, NY
Specialist
PI on 2 active trials1 Fabry disease publication
JP
Jeanine R. Jarnes, PharmD
MINNEAPOLIS, MN
Specialist
PI on 3 active trials
AD
Albert HAGEGE, Dr
Paris, Paris
Specialist

Rare Disease Specialist

OM
Ozlem Goker-Alpan, MD
Fairfax, Virginia
Specialist

Rare Disease Specialist

PI on 9 active trials
CP
Caroline M Kistorp, Professor
Copenhagen
Specialist

Rare Disease Specialist

PI on 2 active trials
EM
Erica Daina, MD
Specialist
PI on 2 active trials
EP
Elena Biagini, MD, PhD
Chieti, Abruzzo/Chieti
Specialist

Rare Disease Specialist

PI on 2 active trials
AM
Arian Pano, MD, MPH
Birmingham, Alabama
Specialist

Rare Disease Specialist

WD
Wladimir MAUHIN, Doctor
Paris, France
Specialist

Rare Disease Specialist

PI on 2 active trials
DM
David G Warnock, MD
BIRMINGHAM, AL
Specialist
PI on 2 active trials
AD
Arndt Rolfs, Prof. Dr.
Specialist
PI on 4 active trials
SP
SANDRINE LEMOINE, PU-PH
Lyon, France
Specialist

Rare Disease Specialist

OP
Oliver Price, PhD
Leeds, Leeds
Specialist

Rare Disease Specialist

Treatment Centers

8 centers
⚗️ Trial Site

Ann & Robert H. Lurie Children's Hospital of Chicago

📍 Chicago, Illinois

⚗️ Trial Site

University of Minnesota

📍 Minneapolis, Minnesota

⚗️ Trial Site

Emory University

📍 Atlanta, Georgia

⚗️ Trial Site

IRCCS Azienda Ospedaliero-Universitaria di Bologna

📍 Bologna

👤 Tommaso Pippucci, Biologist

⚗️ Trial Site

UPMC Children's Hospital of Pittsburgh

📍 Pittsburgh, Pennsylvania

⚗️ Trial Site

Peking University First Hospital

📍 Beijing, Beijing Municipality

⚗️ Trial Site

Peking Union Medical College Hospital

📍 Beijing, Beijing Municipality

⚗️ Trial Site

Emory University School of Medicine

📍 Atlanta, Georgia

Financial Resources

10 resources
ELFABRIO(PEGUNIGALSIDASE ALFA)Chiesi USA, Inc.
Fabrazyme(AGALSIDASE BETA)Genzyme Corporation
Galafold(MIGALASTAT HYDROCHLORIDE)Amicus Therapeutics US, LLC

HealthWell Foundation — Fabry disease

HealthWell Foundation

Fabry disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

Good Days — Fabry disease

Good Days

Fabry disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

Patient Services Inc — Fabry disease

Patient Services Inc

Fabry disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

The Assistance Fund — Fabry disease

The Assistance Fund

Fabry disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

Patient Advocate Foundation — Fabry disease

Patient Advocate Foundation

Fabry disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

NORD Patient Assistance — Fabry disease

NORD Patient Assistance

Fabry disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

PAN Foundation — Fabry disease

PAN Foundation

Fabry disease

Verified 3d ago
Foundation Grant
foundation grant
Currently closed
Apply Get notified when open

5 travel grants are also available for Fabry disease patients — see Travel Grants below ↓

Travel Grants

5 grants

PAN Foundation - Fabry Disease Premium Assistance Fund

PAN Foundation

Applicants must be receiving treatment for Fabry disease in the United States or U.S. territories and have health insurance that covers their qualifying medication. Additionally, their household income must be at or below 500% of the Federal Poverty Level.

Apply ↗Up to $9,800

CareConnectPSS Copay Assistance Program

Sanofi

Apply ↗

The Assistance Fund - Fabry Disease Financial Assistance Program

The Assistance Fund

Apply ↗

National Kidney Foundation - Prescription Discount and Assistance Resources

National Assistance Foundation

Apply ↗

Fabry Assist

Fabry Support & Information Group (FSIG)

The Fabry Assist Program provides one-time or infrequent financial support for US residents with Fabry disease for needs like travel to meetings and medical bills. Eligibility requires verification of necessity from a medical provider and is intended to cover expenses not addressed by other assistance programs.

Apply ↗

Community

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Latest news about Fabry disease

4 articles
NewsUNITERAREApr 20, 2026
Fund Update: PAN Foundation — Fabry disease Fabry disease fund is currently closed
The PAN Foundation's financial assistance program for Fabry disease patients is currently closed and not accepting new applications. Fabry disease is a rare gen
Clinical trialCLINICALTRIALSApr 14, 2026
Trial Results Posted: Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR) (NCT04046224)
Researchers tested a new gene therapy called ST-920 for Fabry disease in 36 patients. This treatment uses a modified virus to deliver instructions that help the
ResearchPUBMEDApr 3, 2026
Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.
Researchers reviewed studies from the past 10 years about how artificial intelligence and connected care technologies can help patients with rare diseases, espe
NewsUNITERAREApr 3, 2026
Fund Update: PAN Foundation — Fabry disease Fund Fabry disease fund is currently closed
The PAN Foundation's financial assistance program for Fabry disease patients is currently closed and not accepting new applications. This program previously pro
See all news about Fabry disease

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Fabry disease

What is Fabry disease?

Fabry Disease is treated with 4 medications in our database, including Galafold, ELFABRIO, Zavesca, Fabrazyme. 2 of these have manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Amicus, Chiesi, Actelion, Sanofi. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Fabry Disease treatment below.

How is Fabry disease inherited?

Fabry disease follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Fabry disease?

Yes — 20 recruiting clinical trials are currently listed for Fabry disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Fabry disease?

25 specialists and care centers treating Fabry disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Fabry disease?

4 FDA-approved treatments and 10 patient support programs are currently tracked on UniteRare for Fabry disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.