Lysomal Storage Disorder

The Chameleon

Fabry Disease

Fabry Disease is an X-chromosomal inherited lysosomal storage disorder based on the deficiency of the enzyme alpha-galactosidase A. This leads to accumulation of globotriaosyl-ceramide (Gb3) in the cells of various organs. The clinical picture of M. Fabry is very heterogeneous and ranges from mild phenotypes rather in heterozygous women to severe clinical course in classically affected men. Characteristic symptoms include acroparesthesia, cardiac symptoms associated with cardiomyopathy and arrhythmias, progressive renal failure and cerebro-vascular complications (strokes). A typical eye manifestation is the cornea verticillata. Therapeutically, 3 drugs are currently available: enzyme replacement therapies with agalsidase alfa or agalsidase beta or chaperone therapy with migalastat. 

Fabry Disease | SphinCS - Clinical Science for LSD

Synonym: Anderson-Fabry Disease
Etiology: Deficiency of alfa-galactosidase A
Gene: GLA Gene
Mode of inheritance: X-Chromosomal

Leading symptoms:

  • Acroparesthesia
  • Cardiomyopathy, arrhythmia
  • Proteinuria, renal insufficiency
  • Strokes
  • Angiokeratoma
  • Cornea verticillata

Diagnostics:

  • Measurement of the activity of alfa-galactosidase A (Attention: activity of alfa-galactosidase A may be normal in female patients)
  • Molecular genetic analysis of GLA Gene

Therapy:

  • Agalsidase alfa (Replagal®)
  • Agalsidase beta (Fabrazyme®)
  • Migalastat (Galafold®): only for patients with an amenable galactosidase alfa gene variant

Current Studies

Fabry Disease
Modify Idorsia
A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of Lucerastat oral monotherapy in adult subjects with Fabry Disease
Age

> 18 Years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.

Self-help groups

Morbus Fabry Selbsthilfegruppe e.V.
https://fabry-shg.org/

At the moment we are not aware of any self-help groups.

Literature

At present we have no literature available.