About Friedreich ataxia (FA)

Identifying early signs of FA can help speed diagnosis before starting treatment


Most patients are diagnosed in childhood or adolescence*3,4

FA diagnosis takes an average of 3 years5


The severity of FA can be measured with a tool like the modified Friedreich Ataxia Rating Scale (mFARS). The higher the score (from 0 to 93), the worse the disease gets2,6

The average progression of FA is ~2 points per year— ~10-15 years after diagnosis, or at ~65 points, patients typically begin using a wheelchair6-8

A patient’s average life expectancy is ~37.5 years2

*SKYCLARYS was not evaluated in patients younger than 16 years or older than 40 years of age.

The importance of early diagnosis

Identifying the early signs of FA

FA is a rare, hereditary form of progressive neurodegenerative ataxia. FA is the most common form of inherited ataxia, affecting ~5000 people in the United States.2,3,9

Gait ataxia

Poor proprioception


Peripheral neuropathy

Chronic fatigue

The right genetic test for FA

A genetic test that includes a Friedreich Ataxia Repeat Expansion Analysis can confirm diagnosis of FA


of FA cases are caused by a homozygous GAA triplet-repeat expansion within the frataxin gene9

More on genetic testing

Choose an FA repeat expansion analysis11

  • Only a genetic test that includes an FA repeat expansion analysis can detect pathogenic repeat expansion variants
  • Standard multigene panels that include only a sequence analysis cannot detect the triple-repeat expansion variants

Genetic tests: More than just a diagnosis — a prognosis3,11

  • One way to determine the anticipated severity of FA is by identifying the number of GAA triplet repeats. Currently, only an FA repeat expansion analysis that includes sizing of the repeat expansion can give you this information

A greater number of triple repeats is associated with3:

  • Earlier disease onset
  • More severe symptoms
  • More rapid progression

1. Skyclarys. Prescribing Information. Biogen; 2024. 2. Lynch DR, Chin MP, Delatycki MB, et al. Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study). Ann Neurol. 2021;89(2):212-225. doi:10.1002/ana.25934 3. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126(suppl 1):103-117. doi:10.1111/jnc.12317 4. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222-234. doi:10.1038/nrneurol.2009.26 5. Rummey C, Farmer JM, Lynch DR. Predictors of loss of ambulation in Friedreich’s ataxia. eClinicalMedicine. 2020;18:1-9. doi:10.1016/j.eclinm.2019.11.006 6. Rummey C, Corben LA, Delatycki MB, et al. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019;5(6):371. doi:10.1212/NXG.0000000000000371 7. Patel M, Isaacs CJ, Seyer L, et al. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016;3(9):684-694. doi:10.1002/acn3.332 8. Lynch DR, Chin MP, Boesch S, et al. Efficacy of omaveloxolone in Friedreich’s ataxia: delayed-start analysis of the MOXIe extension. Mov Disord. 2023;38(2):313-320. doi:10.1002/mds.29286 9. Galea CA, Huq A, Lockhart PJ, et al. Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia. Ann Neurol. 2016;79(3):485-495. doi:10.1002/ana.24595 10. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-257. 11. Wallace SE, Bird TD. Molecular genetic testing for hereditary ataxia: what every neurologist should know. Neurol Clin Pract. 2018;8(1):27-32. doi:10.1212/CPJ.0000000000000421 12. Data on file. Reata Pharmaceuticals, Inc.; 2022. 13. Lynch DR, Goldsberry A, Rummey C, et al. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data. Ann Clin Transl Neurol. 2024;11(1):4-16. doi:10.1002/acn3.51897
14. Beaulieu-Jones BK, Finlayson SG, Yuan W, et al. Examining the use of real-world evidence in the regulatory process. Clin Pharmacol Ther. 2020;107(4):843-852. doi:10.1002/cpt.1658