Fabry UK fabryuk.com

What's available on the NHS

Licensed treatments for Fabry disease

Four disease-specific medicines are currently licensed and NICE-recommended for Fabry disease in the UK: three enzyme replacement therapies and one oral chaperone therapy. Which one is right for you depends on your genetic variant, age, symptoms and preferences.

This is general information, not a recommendation. Only your specialist metabolic team (see Treatment Centres) can advise which treatment, if any, is appropriate for you, based on your genetic variant and NICE eligibility criteria.

Enzyme replacement therapies (ERT)

Given by intravenous infusion, usually every two weeks, to supplement the missing enzyme directly.

Fabrazyme (agalsidase beta)

Sanofi

One of the original ERTs for Fabry disease, produced from Chinese hamster ovary cells. Licensed dose is 1 mg/kg of body weight, given by IV infusion every other week.

Type
Enzyme replacement therapy
Route
Intravenous infusion, every 2 weeks

Replagal (agalsidase alfa)

Takeda

Produced from a human cell line. Licensed dose is 0.2 mg/kg of body weight, given by IV infusion every other week. Available in the UK since the early 2000s.

Type
Enzyme replacement therapy
Route
Intravenous infusion, every 2 weeks

Elfabrio (pegunigalsidase alfa)

Chiesi

The newest ERT option, recommended by NICE for NHS use in 2023. It's a pegylated enzyme with a longer half-life than earlier ERTs. Licensed dose is 1 mg/kg of body weight, given by IV infusion either every 2 weeks or, once established on treatment, every 4 weeks — your specialist team will advise which schedule suits you.

Type
Enzyme replacement therapy (pegylated)
Route
Intravenous infusion, every 2 or 4 weeks

Oral chaperone therapy

A tablet taken at home rather than an infusion — but only suitable for certain genetic variants.

Galafold (migalastat)

Amicus Therapeutics

An oral pharmacological chaperone that binds to and stabilises a person's own faulty enzyme, helping it fold correctly and work more effectively. It's only an option for people whose specific GLA variant is confirmed as "amenable" using a dedicated laboratory assay — roughly a third to a half of people with Fabry disease have an amenable mutation.

Type
Oral pharmacological chaperone
Route
Tablet, every other day, same time of day
Eligibility
Adults and adolescents (from around 12 years, ≥45kg) with an amenable GLA mutation and adequate kidney function

How a treatment is chosen

  • Genetic variant

    Your specific GLA mutation determines whether Galafold is an option — this is tested via a specific amenability assay.

  • Disease activity & organ involvement

    NICE and NHS England set clinical criteria for starting treatment, based on symptoms and evidence of organ involvement (kidney, heart, nervous system).

  • Practical factors

    Infusion-based ERT requires regular hospital or homecare visits; oral therapy offers more flexibility but isn't suitable for everyone. Your team will talk through what fits your life.

  • Ongoing review

    Whichever treatment is started, response is monitored over time with blood tests, imaging and symptom review, and can be adjusted if needed.

Beyond disease-specific treatment

Many people also need supportive treatment for individual symptoms — pain management, blood-pressure or kidney-protective medication, and cardiology care — regardless of whether they're on ERT or chaperone therapy. See Understanding Fabry Disease for more on symptom management, and ask your specialist team about what else might help day to day.

Newer approaches, including substrate reduction therapy and gene therapy, are in clinical development. Ask your specialist centre whether a relevant trial is currently recruiting.