Table 1 Inclusion criteria, contraindications for migalastat treatment, and exclusions from the therapy
From: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
Inclusion criteria |
Age ≥ 12 years old |
Symptomatic classic phenotype or late-onset Fabry disease (at least one organ affected) |
Sex-specific criteria: |
Men: significant deficiency of α-galactosidase A in a dried blood test, plasma, leukocytes, fibroblasts |
The presence of a pathogenic amenable mutation |
Females—deficiency of α-galactosidase A (in case of symptoms is not required) |
The presence of a pathogenic amenable mutation |
GFR ≥ 30 ml/min/1.73 m2 |
Contraindications |
Age < 12 years old |
Non-amenable genetic variants |
Simultaneous ERT |
Dialysis therapy |
GFR < 30 ml/min/1.73 m2 |
Pregnancy and lactation |
Hypersensitivity reaction to the drug or excipient |
Asymptomatic form of the disease |
Heart: advanced stage of the disease with diffuse myocardial fibrosis, NYHA IV, no possibility of heart transplantation if the heart is the only organ involved |
CNS: advanced changes |
Kidney: end-stage failure without the possibility of kidney transplantation |
End-stage of Fabry disease or existing comorbidities or another congenital malformation with an unfavorable prognosis |
Exclusions from the therapy |
Hypersensitivity reaction |
Serious adverse events |
Pregnancy and lactation |
No improvement despite treatment |
Lack of cooperation with the patient |