PGx migalastat

The report states the identified GLA variant, whether it is amenable, and its clinical interpretation. A pathogenic or likely pathogenic amenable variant makes a patient eligible; a non-amenable variant does not. An amenable variant of uncertain significance, or one that may be benign, does not by itself establish eligibility: the US prescribing information lists GLA c.937G>T (p.D313Y) as amenable yet considers it benign and not causing Fabry disease, and recommends clinical-genetics consultation.

A result reflects only the variant detected and its amenability as defined by the in vitro assay. A negative or inconclusive result does not exclude , and variants outside the assay-validated amenability list, including splicing, deep-intronic or copy-number changes, may require methods beyond targeted genotyping.

The authorises migalastat for the long-term treatment of patients aged 12 years and older with a confirmed diagnosis of Fabry disease who carry an amenable GLA mutation; in adolescents the product information restricts treatment to those weighing at least 45 kg. The approves it for adults only, under accelerated approval based on the reduction of kidney interstitial capillary cell globotriaosylceramide, with continued approval contingent on confirmatory trials. No pharmacogenomic consortium has issued a genotype-based guideline for this gene-drug pair, so eligibility rests on the amenability determination and clinical interpretation set out in the product information.

For current, actionable guidance consult the maintained external resources, in this order: the amenability table in the , which is the authoritative list for the European Union and differs from the table of the US label; and the

Results are interpreted in the individual clinical context and the treatment decision rests with the treating physician.

Content reviewed against the current guidelines on 28 July 2026. Pharmacogenomic classifications are periodically revised; the linked databases above hold the day-current version.

• Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, et al. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genet Med. 2017;19(4):430-438. PMID: .
• European Medicines Agency. Galafold (migalastat): EPAR, medicine overview and product information. Last updated August 25, 2025. Available from:
• Nowicki M, Bazan-Socha S, Błażejewska-Hyżorek B, Kłopotowski MM, Komar M, Kusztal MA, et al. A review and recommendations for oral chaperone therapy in adult patients with Fabry disease. Orphanet J Rare Dis. 2024;19(1):16. PMID: .
• US Food and Drug Administration. GALAFOLD (migalastat) prescribing information, application 208623. 2025. Available from: