Treatment Approaches

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Enzyme Replacement Therapy (ERT)

The goal of ERT is to replace the enzyme which may be deficient in patients with Fabry disease. ERT has been approved for use in many countries throughout the world, including the United States and those in the European Union.

Gene therapy

Still in its early stages, research is focusing on delivering the alpha-GAL gene directly into a patient’s liver, lung, or muscle, in effect genetically modifying these organs to produce alpha-GAL.1,2 Other research seeks to genetically alter a patient’s stem cells to produce alpha-GAL.3,4

Traditional drug therapy research

Research is ongoing for more traditional drug therapy approaches that could potentially be used in conjunction with either gene therapy or enzyme replacement therapy.

References:

1. Ohsugi K, Kobayashi K, Itoh K, Sakuraba H, Sakuragawa N. Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector. J Hum Genet. 2000;45:1-5. Page 1, Paragraph 1, Sentence 8

2. Ziegler RJ, NS Yew, C Li, et al. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum Gene Ther. 1999;10:1667-1682. Psge 1668, Column 1, Paragraph 4, Sentence 1-2

3. Takiyama N, JT Dunigan, MJ Vallor, et al. Retrovirus-mediated transfer of human alpha-galactosidase A gene to human CD34+ hematopoietic progenitor cells. Hum Gene Ther. 1999;10:2881-2889. Page 2881, Paragraph 3, Sentence 1

4. Takenaka T, CS Hendrickson, DM Tworek, et al. Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derived from patients with Fabry disease. Exp Hematol. 1999;27:1149-1159. Page 1149, Column 2, Paragraph 3, Sentence 1