Overview

Fabry disease is a rare, progressive genetic disorder characterized by a defective GLA gene that causes a deficiency in the enzyme alpha-Galactosidase A (alpha-Gal A). This enzyme is responsible for breaking down glycosphingolipid substrate that, when deficient in patients with Fabry disease, builds up in the blood vessels, the kidneys, the nerves, the heart, and other organs. In the U.S., it is estimated that more than 3,000 people are living with Fabry disease, and an estimated more than 50 percent of these diagnosed patients are currently untreated. Migalastat (approved and sold under Amicus Therapeutics' brand name Galafold) is subsequently an oral pharmacological chaperone of alpha-Gal A for the treatment of Fabry disease in adults who have amenable GLA variants. In these patients, migalastat works by stabilizing the body’s dysfunctional alpha-Gal A enzyme so that it can clear the accumulation of glycosphingolipid disease substrate. Globally, it is estimated that approximately 35 to 50 percent of Fabry patients may have amenable GLA variants that are treatable with migalastat. Given the rarity of Fabry disease and the proportion of Fabry disease patients that could benefit from migalastat therapy, Amicus Therapeutics' brand name Galafold was approved using the Accelerated Approval pathway, under which the FDA may approve drugs for serious conditions where there is an unmet medical need and where a drug is shown to have certain effects that are reasonably likely to predict a clinical benefit to patients. A further study is required to verify and describe the clinical benefits of Galafold, and the sponsor will be conducting a confirmatory clinical trial of Galafold in adults with Fabry disease. Additionally, Galafold was also granted Priority Review designation, under which the FDA’s goal is to take action on an application within six months of application filing where the agency determines that the drug if approved, would provide a significant improvement in treating, diagnosing or preventing a serious condition over available therapies. Galafold also received Orphan Drug designation, which provides incentives to assist and encourage the development of drugs for rare diseases. As of August 2018, migalastat under Amicus Therapeutics' brand name Galafold is currently approved in Australia, Canada, European Union, Israel, Japan, South Korea, Switzerland, and the United States.

Indication

Migalastat is approved by the FDA 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. This indication is approved under accelerated approval based on a 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. Migalastat is also approved by the EMA and Health Canada to treat the same disease, although it is approved for both adults and adolescents aged 16 years and older in Europe.

Associated Conditions

Fabry's Disease

Research Report

Published: May 29, 2025

Migalastat (Galafold): A Comprehensive Report on the Pharmacological Chaperone for Fabry Disease

1. Introduction to Migalastat (Galafold)

1.1 Overview of Fabry Disease and Unmet Needs

Fabry disease is an infrequent, progressive, X-linked lysosomal storage disorder. It arises from a deficiency in the activity of the enzyme alpha-galactosidase A (α-Gal A), which is a consequence of mutations in the GLA gene.[1] This enzymatic deficiency leads to the systemic accumulation of glycosphingolipids, predominantly globotriaosylceramide (GL-3 or Gb3) and its deacylated form, globotriaosylsphingosine (lyso-Gb3), within the lysosomes of various cell types. Organs commonly affected include the blood vessels, kidneys, nerves, and heart.[1]

The clinical manifestations of Fabry disease are diverse and can be debilitating, often appearing in childhood or adolescence and progressing over decades.[6] Key symptoms and complications include chronic neuropathic pain, characteristic skin lesions (angiokeratomas), gastrointestinal disturbances, progressive renal impairment potentially leading to end-stage renal disease, hypertrophic cardiomyopathy, arrhythmias, and an increased risk of cerebrovascular events such as stroke.[2] These complications contribute to significant morbidity and a reduced life expectancy if the disease is left unmanaged.[2]

Continue reading the full research report

Clinical Trials

Title	Posted	Study ID	Phase	Status	Sponsor
A Study of Patients With Fabry Disease (US Specific)	2025/04/02	NCT06906367	N/A	Not yet recruiting	Amicus Therapeutics
A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease	2022/03/15	NCT05280548	Phase 3	Active, not recruiting	Sanofi
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding	2020/02/05	NCT04252066	N/A	Recruiting	Amicus Therapeutics
Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease	2019/08/08	NCT04049760	Phase 3	Completed	Amicus Therapeutics
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease	2019/07/15	NCT04020055	Phase 3	Recruiting	Amicus Therapeutics
A Study of Migalastat in Fabry Disease	2019/05/14	NCT03949920	N/A	Active, not recruiting	Manchester University NHS Foundation Trust
Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)	2018/04/17	NCT03500094	Phase 3	Completed	Amicus Therapeutics
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease	2014/07/21	NCT02194985	Phase 3	Completed	Amicus Therapeutics
A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers	2014/03/10	NCT02082327	Phase 1	Completed	Amicus Therapeutics
Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease	2011/11/22	NCT01476163	N/A	AVAILABLE	Amicus Therapeutics

FDA Drug Approvals

Approved Product	Manufacturer	NDC Code	Route	Strength	Effective Date
Galafold	Amicus Therapeutics US, LLC	71904-100	ORAL	123 mg in 1 1	12/15/2021

EMA Drug Approvals

Approved Product	Authorization Holder	Status	Issued Date
Galafold	Amicus Therapeutics Europe Limited,Block 1, Blanchardstown Corporate Park,Ballycoolin Road,Blanchardstown,Dublin 15,D15 AKK1,Ireland	Authorised	5/25/2016
Galafold	Amicus Therapeutics Europe Limited,Block 1, Blanchardstown Corporate Park,Ballycoolin Road,Blanchardstown,Dublin 15,D15 AKK1,Ireland	Authorised	5/25/2016

HSA Drug Approvals

Approved Product	Manufacturer	Approval Number	Dosage Form	Strength	Approval Date
No HSA approvals found for this drug.

NMPA Drug Approvals

Approved Product	Company	Approval Number	Drug Type	Dosage Form	Approval Date
No NMPA approvals found for this drug.

PPB Drug Approvals

Approved Product	Registration No.	Company	Licence No.	Strength	Registration Date
No PPB approvals found for this drug.

TGA Drug Approvals

Approved Product	ARTG ID	Sponsor	Registration Type	Status	Registration Date
GALAFOLD migalastat (as hydrochloride) 123 mg hard capsule blister pack	276051	Amicus Therapeutics Pty Ltd	Medicine	A	8/11/2017

Health Canada Drug Approvals

Approved Product	Company	DIN	Dosage Form	Strength	Market Date
No Health Canada approvals found for this drug.

CIMA AEMPS Drug Approvals

Approved Product	Company	Registration Number	Pharmaceutical Form	Prescription Type	Status
No CIMA AEMPS (Spain) approvals found for this drug.

Philippines FDA Drug Approvals

Approved Product	Company	License Number	Dosage Form	Strength	Approval Date
No Philippines FDA approvals found for this drug.

Saudi SFDA Drug Approvals

Approved Product	Company	License Number	Dosage Form	Strength	Approval Date
No Saudi SFDA approvals found for this drug.

Malaysia NPRA Drug Approvals

Approved Product	Company	Registration Number	Dosage Form	Strength	Approval Date
No Malaysia NPRA approvals found for this drug.

UK EMC Drug Information

Medicine Name	MA Holder	MA Number	Pharmaceutical Form	Active Ingredient	Authorization Date
No UK EMC drug information found for this drug.

Related News

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3 months ago

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Navigating the Orphan Drug Landscape in Europe: HTA Challenges and the Rising Role of Real-World Evidence

5 months ago

• European orphan drug approvals have grown significantly, with 192 approvals through 2022, yet approximately 95% of rare diseases still lack approved treatments, highlighting persistent market access challenges despite regulatory progress. • HTA outcomes for orphan drugs vary dramatically across European countries, with approval rates ranging from 98% in Germany to 67% in Scotland, creating inconsistent patient access and requiring tailored market entry strategies. • Real-world evidence (RWE) is emerging as a critical solution to bridge the evidence gap in orphan drug development, with pharmaceutical companies increasingly investing in RWE infrastructure to support regulatory approvals and strengthen value propositions.

Amicus Therapeutics to Present Extensive Research on Fabry and Pompe Diseases at WORLDSymposium 2025

6 months ago

• Amicus Therapeutics will showcase 16 presentations at WORLDSymposium 2025, featuring comprehensive research on migalastat for Fabry disease and cipaglucosidase alfa plus miglustat for Pompe disease. • Key studies include long-term patient outcomes from the FollowME Fabry Pathfinders registry and real-world evidence of treatment effectiveness in both rare diseases. • Notable research highlights treatment satisfaction, quality of life improvements, and clinical outcomes in patients switching from existing therapies to Amicus' novel treatment approaches.

FDA Grants Orphan Drug Designation to EXG110 Gene Therapy for Fabry Disease

8 months ago

• The FDA has granted orphan drug designation to EXG110, a novel gene therapy developed by Exegenesis Bio for Fabry disease. • EXG110 is designed as a one-time treatment to deliver a genetic payload directly to liver and heart cells, potentially improving efficacy and safety. • A clinical trial in China has already dosed its first patient, and plans are underway to launch a US-based clinical trial for EXG110. • Fabry disease, a rare lysosomal disorder, leads to lipid accumulation and can cause renal failure, cardiac disease, and strokes, highlighting the need for new treatments.

Sangamo Therapeutics' Fabry Disease Candidate ST-920 Gains Accelerated Approval Pathway

9 months ago

• Sangamo Therapeutics' shares surged after the FDA agreed to a regulatory pathway for accelerated approval of isaralgagene civaparvovec (ST-920) for Fabry disease. • The FDA will consider data from the Phase I/II STAAR trial, using the rate of decline in eGFR at 52 weeks as the primary basis for approval. • Sangamo plans to submit a BLA in the second half of 2025, three years ahead of previous estimates, potentially bringing the treatment to patients sooner. • Septerna, focusing on GPCR therapies, raised $288 million in an upsized IPO, highlighting renewed interest in biotech IPOs.

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