Confirmation of a Fabry disease diagnosis by a health care professional is required. This website only confirms the amenability of a GLA gene mutation to Galafold®, as determined by the Migalastat GLP HEK Assay. Detailed results from the Migalastat GLP HEK Assay are available for all amenable GLA mutations. Please contact Amicus Medical Information and provide the mutation using standard HGVS nomenclature.

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Galafold (migalastat)

Amenability Table

Search GLA Mutations

You can use this search tool to find out whether a specific GLA mutation has been classified as amenable to treatment with GALAFOLD® according to the approved SmPC.

GALAFOLD® is indicated for long-term treatment of adults and adolescents aged 12 years and older with a confirmed diagnosis of Fabry disease (α-galactosidase A deficiency) and who have an amenable mutation.

Female patients have two GLA genes on two different chromosomes. The patient is considered amenable if the GLA mutations on either chromosome are amenable. Please utilize the appropriate search function to determine if the mutation or mutations on each chromosome are amenable.

Enter either a nucleotide or amino acid change.

For Nucleotide Change

Please use format c.#A>B or c.A#B for nucleotide sequence changes, where 'c.' is optional; # indicates a number; A and B are letters. Examples: c.8T>C or c.T8C

For Amino Acid Change

Please use format p.A#B for protein sequence changes, where 'p.' is optional; # indicates a number; A and B are letters. Example: p.L3P

*Note: This is only for searching multiple mutations on the same chromosome.

For Nucleotide Change

Please use format c.#A>B or c.A#B for nucleotide sequence changes, where 'c.' is optional; # indicates a number; A and B are letters. Examples: c.8T>C or c.T8C

For Amino Acid Change

Please use format p.A#B for protein sequence changes, where 'p.' is optional; # indicates a number; A and B are letters. Example: p.L3P

ENTER UP TO THREE MUTATIONS

See the SmPC for full prescribing information

Last Updated: 03 May 2022

This latest update includes the addition of all missense mutations in the GLA gene not already listed