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Fabry disease

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Current status: Treatable, not yet curable

An inherited condition in which a fatty substance builds up in cells because an enzyme does not work well.1 Signs start in childhood: bouts of pain in the hands and feet, dark red skin spots and less sweating.1 Treatment is an enzyme drip every one to two weeks or, for some types, a tablet that helps the body's own enzyme work.2 Over time it can damage the kidneys and heart and cause a stroke.1

Read more about Fabry disease
Where research stands todayUpdated 12 Nov 2026
Trial-stage treatments you can join–open now
in United StatesStudies published in the last 12 months106 in people · 2 in animals · 2 in the labSupport organisations5organisations
in United States
Offer tissue or dataGive a sample or your health data to research.Treatments outside United StatesWhere it is offered, and who pays.“Miracle cure” fact checkerSaw a cure online? Check it before you pay.

Trial-stage treatments and research studies you can join

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Where treatment stands

Where research stands now

On 11 November 2026, 50 trials and studies of Fabry disease were open; 17 with a mapped site test a treatment. Then, 14 treatments were tested in people: 6 in phase 3 (the last, largest trials before approval), 3 in phase 2/3, 4 in phase 1/2 and 1 in early phase 1. From 5 November 2025 to 11 November 2026, articles reported 6 treatment studies in people, 2 in animals and 2 in lab cells. That day, 2 medicines had US approval for Fabry disease, and none an EU approval.

Machine-written from the registry counts and the regulators' lists · 2026-11-11

We found 4 medicines approved for Fabry disease in the EU, the US, Switzerland or France.

Approved: 4

Officially approved for this disease in the EU, the US, Switzerland or France.

Where this comes from

The EU medicines agency (EMA) and its list of medicines in the EU, US prescribing labels (DailyMed, openFDA), the Swiss medicines register (Swissmedic), the French medicines database (ANSM) and the Health Canada drug database, checked on 11 November 2026. Every medicine links to its own official text.

A computer made this list from the official texts: it kept only medicines whose own approval text names the disease, wrote "Who it is for" from that text and checked it against the text a second time. People have not reviewed it yet.

Not medical advice. Talk to your doctor before you change any treatment.

Treatments approved outside the EU

We found no medicine for Fabry disease approved in the US or Japan that is not approved in the EU. These are the ones approved in the EU.

Checked on 11 Nov 2026 in the official lists of the US (FDA), Japan (PMDA, approvals since April 2004) and the EU (EMA).

Check with your insurance

Your health insurer may pay part of the cost, sometimes all of it. This depends on your insurer, your plan and the country, so always ask your insurer before you go. For planned care in the EU, the EEA and Switzerland, ask about form S2.

Support organisations

Patient organisations and helplines in United States, for you and your family.

Fabry disease organisations in United States

  • Fabry Support & Information Group

    US nonprofit providing resources, community support and events for people and families affected by Fabry disease.

    fabry.org
  • Genetic and Rare Diseases Information Center

    NIH information center (GARD) providing reliable information on genetic and rare diseases to patients and families via website and contact center.

    rarediseases.info.nih.gov
  • National Organization for Rare Disorders

    US national rare disease alliance of patient organizations: education, patient assistance programs, rare disease database and policy advocacy.

    rarediseases.org

General support in United States

  • 988 Suicide & Crisis Lifeline

    US national 24/7 free and confidential lifeline for anyone in suicidal crisis or emotional distress, reachable by calling or texting 988 or by chat.

    988lifeline.org
  • MedlinePlus

    Free, easy-to-read health information service of the US National Library of Medicine (NIH) on diseases, conditions, drugs and wellness.

    medlineplus.gov

International

General support

  • European Patients' Forum (EPF)

    Umbrella of European patient organisations and national patient coalitions.

    eu-patient.eu
  • International Alliance of Patients' Organizations

    Global alliance of patient organisations of all diseases, promoting patient-centred healthcare.

    iapo.org.uk

Patient organisation umbrella bodies

Offer tissue or data

There are three ways to help research move faster.

Give tissue or bloodA biobank stores your sample so many research teams can use it.No open programme yet
Share your health dataA patient registry collects your health data, without your name, for research.How to join
Take part as a healthy volunteerStudies also need people without the disease, for comparison. Family and friends can help.Volunteer

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About Fabry disease

What is it?

In Fabry disease, a change in one gene means an enzyme called alpha-galactosidase A does not work well.1 This enzyme normally breaks down a fatty substance inside the cells' recycling parts (lysosomes).1 Without it working, the fat builds up and damages cells, especially in the blood vessels, kidneys, heart and nerves.1

It affects an estimated 1 in 1,000 to 9,000 people; milder forms that start later in life are probably more common than the classic form.1 The gene is on the X chromosome.1 Men with the changed gene are affected.1,2 Women with one changed gene can also have serious problems, but their signs usually start later and are milder, and a few never have any.1

The first signs

In the classic form, signs begin in childhood.1

  • bouts of pain, mainly in the hands and feet;1
  • clusters of small, dark red spots on the skin;1
  • sweating less than normal;1
  • stomach and bowel problems;1,2
  • ringing in the ears or hearing loss.1

Tiredness and low mood can also happen.2 In the milder, later forms, often only the heart, kidneys or blood vessels in the brain are affected.1

Will it get worse?

It is very different from person to person: some adults have few symptoms, others are badly affected.2,1 Over time it can lead to kidney failure, an irregular heartbeat or heart failure, and stroke, which can be life-threatening.1,2

Current treatment

Treatment is enzyme replacement therapy, a drip every one to two weeks, or for certain types chaperone therapy, a tablet that helps the body's own enzyme work better.Source: NHS (Cambridge University Hospitals)

Medicines: what helps, and what to watch for

There are two kinds of treatment.2 Enzyme replacement therapy is a drip into a vein, usually every one to two weeks. It gives you extra enzyme that adds to your own and helps reduce the stored material in your cells.2 Chaperone therapy is a tablet taken on set days of the week that helps the body's own enzyme work better.2

Good to know:

  • the first enzyme drips are given in hospital; later a nurse can teach you to give them at home;2
  • The tablet is only helpful for certain types of Fabry disease, and your doctor or nurse will tell you if it is suitable for you;2

Sources

  1. MedlinePlus Genetics: Fabry disease
  2. NHS (Cambridge University Hospitals): Fabry disease – patient information