Lentivirus-mediated gene therapy for Fabry disease

Nat Commun. 2021 Feb 25;12(1):1178. doi: 10.1038/s41467-021-21371-5.

Abstract

Enzyme and chaperone therapies are used to treat Fabry disease. Such treatments are expensive and require intrusive biweekly infusions; they are also not particularly efficacious. In this pilot, single-arm study (NCT02800070), five adult males with Type 1 (classical) phenotype Fabry disease were infused with autologous lentivirus-transduced, CD34+-selected, hematopoietic stem/progenitor cells engineered to express alpha-galactosidase A (α-gal A). Safety and toxicity are the primary endpoints. The non-myeloablative preparative regimen consisted of intravenous melphalan. No serious adverse events (AEs) are attributable to the investigational product. All patients produced α-gal A to near normal levels within one week. Vector is detected in peripheral blood and bone marrow cells, plasma and leukocytes demonstrate α-gal A activity within or above the reference range, and reductions in plasma and urine globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) are seen. While the study and evaluations are still ongoing, the first patient is nearly three years post-infusion. Three patients have elected to discontinue enzyme therapy.

Publication types

  • Clinical Trial, Phase I
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antigens, CD34
  • Bone Marrow Cells
  • Fabry Disease / enzymology*
  • Fabry Disease / genetics
  • Fabry Disease / therapy*
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Hematopoietic Stem Cells
  • Humans
  • Lentivirus / genetics*
  • Leukocytes
  • Male
  • Middle Aged
  • Trihexosylceramides / blood
  • Trihexosylceramides / urine
  • alpha-Galactosidase / genetics*
  • alpha-Galactosidase / therapeutic use*

Substances

  • Antigens, CD34
  • Trihexosylceramides
  • globotriaosylceramide
  • GLA protein, human
  • alpha-Galactosidase

Associated data

  • ClinicalTrials.gov/NCT02800070

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