Fabry disease
Rare disease · 2009–2025
Every decision
| Medicine | Meeting | Outcome | Consumer input |
|---|---|---|---|
| pegunigalsidase alfa Long-term enzyme replacement therapy in adult patients with a confirmed diagnosis of Fabry disease, restricted to those with end-organ damage (renal, cardiac,… | Jul 2025 | Recommended with restriction | 4 individuals Fabry Australia |
| migalastat Long-term treatment of Fabry disease in patients aged 12 years and older with a confirmed diagnosis and an amenable GLA gene variant. | May 2024 | Recommended with restriction | 47 individuals Fabry Australia · Genetic Alliance Australia · National Fabry Disease Foundation · Australian Pompe Association · Human Genetics Society of Australasia |
| migalastat Treatment of Fabry disease in patients 16 years of age and older who have an amenable mutation. | Dec 2022 | Recommended with restriction | no section in document |
| migalastat Treatment of Fabry disease in patients aged 16 and over who have an amenable mutation. | Jul 2017 | Not recommended | 11 individuals Rare Voices Australia · Fabry Australia |
| migalastat Long-term treatment of Fabry disease in patients aged 16 years and older who have an amenable GLA mutation. | Mar 2017 | Deferred | none received |
| migalastat Long-term treatment of adult and adolescent patients 16 years and older with a confirmed diagnosis of Fabry disease (α-galactosidase A deficiency) and who have… | Nov 2017 | Not recommended | 10 individuals Fabry Australia |
| agalsidase alfa and agalsidase beta Long-term enzyme replacement therapy for Fabry disease (alpha-galactosidase A deficiency) in patients with confirmed diagnosis. | Nov 2009 | Noted | no section in document |
Who spoke
Fabry Australia · Rare Voices Australia · Genetic Alliance Australia · National Fabry Disease Foundation · Australian Pompe Association · Human Genetics Society of Australasia
What the PBS pays
$15M in government benefit over 2024–25, across 548 services.
This is spend on the medicines considered for this condition, not spend on the disease. A medicine used for several conditions is counted in full under each, so figures across conditions add to more than national PBS expenditure.
| Medicine | Government benefit |
|---|---|
| migalastat | $15.4M |
Appraised elsewhere
NICE, in England and Wales, has appraised 1 technology for this condition, recommending 1 . A different committee, a different population and a different price: this is what has been looked at there, not a verdict on what happened here.
| Technology | Appraisal | Outcome | Date |
|---|---|---|---|
| pegunigalsidase alfaPegunigalsidase alfa for treating Fabry disease | TA915 | recommended restricted | 2023-10 |
Registered, not subsidised
Medicines on the ARTG for this condition with no PBAC record at all. Registration and subsidy are separate decisions: a medicine can be legally available in Australia and never have been put to the committee.
| Medicine | On the ARTG since | Registrations |
|---|---|---|
| agalsidase betaFABRAZYME agalsidase beta - rch 5.5mg powder for injection vial | 2002 | 2 |
The ARTG export holds current registrations only, so the year is the earliest entry still on the register rather than a first-registration date. The condition here comes from the registered label, which is usually broader than the population a sponsor asks to have subsidised.
Conditions are classified by a language model from the indication text of each submission, so an individual label here can be wrong. Consumer input is read from the document's own consumer comments section: 4 of 6 decisions since 2014 carried some. Silence means no comment reached the committee through that facility, not that nobody was affected. More on how this was built.