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Oral Migalastat Chaperone Therapy in Fabry

Oral therapy that stabilizes enzyme activity in Fabry patients with amenable GLA mutations.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Oral Migalastat Chaperone Therapy in Fabry?

Migalastat is an oral pharmacologic chaperone that helps the proper folding and lysosomal trafficking of alpha-galactosidase A in Fabry patients with amenable GLA mutations.

The FACETS and ATTRACT trials demonstrated favorable effects on LV mass index, proteinuria and GFR. It is administered as 123 mg every other day and eliminates the need for IV enzyme replacement.

Treatment is used only in patients with amenable mutations on the HEK assay. It offers a convenient option that can improve quality of life.

Symptoms

Fabry cardiac involvement
Proteinuria
Neuropathic pain
Gastrointestinal symptoms
Angiokeratoma
Exercise intolerance
Reduced sweating

Risk Factors

Amenable GLA mutation
Family history
Early-onset symptoms
Severe male phenotype
Cardiac involvement
Renal involvement
Symptomatic female carriers

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Confirmed Fabry disease
  • Detection of amenable mutation
  • Preference for oral therapy
  • Contraindication to ERT
  • Advanced disease
  • Side effect management

Treatment Methods

01
Migalastat 123 mg every other day
02
Multidisciplinary Fabry care
03
Heart failure therapy
04
ACE/ARB for proteinuria
05
Pain management
06
Regular cardiac MRI
07
Family screening

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.