Friedreich's Ataxia Efficacy Studies

Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder that is predominantly caused by a homozygous GAA repeat expansion mutation within intron 1 of the Frataxin (FXN) gene. This inherited disease causes nervous system damage and movement problems. To date, there is no cure or effective treatment for FRDA.

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FRDA Efficacy Studies

We provide proof of concept studies and/or drug efficacy studies in Friedreich’s Ataxia models including services such as clinical observations, body weights, tissue and/or blood collection, and molecular analyses (e.g. ELISA or western blotting) for evaluation of FXN expression levels in the most published models of FRDA:

  • B6.Cg-Fxntm1.1Pand Fxntm1Mkn/J (012329)
  • B6.Cg-Tg(FXN)1Sars Fxntm1Mkn/J (008586
  • STOCK Tg(FXN*)1Sars Fxntm1Mkn/J (018299)
    • The hybrid FVB;B6 genetic background version of strain 008586, offering the productive advantage of larger litters for easier colony maintenance compared to the C57BL/6-congenic.