Understanding
Friedreich Ataxia

What is FA?
Diagnosis
mFARS

Friedreich ataxia (FA) is a progressive
neurodegenerative genetic disease

FA is the most common form of inherited ataxia1

In the United States, approximately 5000
people or more live with FA.2

FA often presents with nonspecific symptoms1,3,4

The first signs of FA typically include a combination of symptoms, such as:

Falls with gait
ataxia

Loss of reflexes
(areflexia)

Lack of balance

(poor proprioception)

Loss of sensation (neuropathy)

Chronic fatigue

The path to an FA diagnosis is often long and frustrating for patients

FA often presents with nonspecific symptoms, creating diagnostic challenges.

  • It is common for patients to see 4 or more doctors before a diagnosis is made5
  • The average time to diagnosis for FA is 3 years after onset of symptoms6
  • Older patients may go more than 8 years before a diagnosis is confirmed5
  • FA is a commonly misdiagnosed condition. As many as 1 in 4 patients with FA have been misdiagnosed5

Time is function for patients with FA6

While each person’s experience is unique, every patient with FA progresses down a neurodegenerative path toward loss of ambulation. In fact, many patients will have already lost some of their functional abilities by the time of diagnosis, typically those related to standing and mobility.

Patients with FA permanently lose their physical abilities over time1,3,4,7

Falling down icon

FA symptoms become apparent: falls, clumsiness, feeling unbalanced, loss of sensation, fatigue1,3,4

Difficulty running icon

Lower limb coordination continues to decline; mobility aids such as canes or walkers may become useful1

Speaking icon

Speech starts to sound slurred as bulbar function becomes more affected1

Shaky hands icon

Hands and arms become less coordinated1

Wheelchair icon

Many patients require the use of a wheelchair 10 to 15 years after onset of symptoms1

Glucose monitor icon

Patients may experience complications from FA such as diabetes or cardiomyopathy1,7

Heart icon

The most common cause of death for people with FA is cardiomyopathy1

test-left test right

FA leads to incapacitation and, eventually, death. The average life expectancy for a patient with FA is 37.5 years1

It's important to confirm an FA
diagnosis with the right genetic test

Learn about genetic testing
Start your patient on SKYCLARYS

INDICATION

  • SKYCLARYS® (omaveloxolone) is indicated for the treatment of Friedreich ataxia in adults and adolescents aged 16 years and older

 

Important Safety Information

 

WARNINGS AND PRECAUTIONS

Elevation of Aminotransferases

  • Treatment with SKYCLARYS can cause an elevation in hepatic transaminases (alanine aminotransferase [ALT] and aspartate aminotransferase [AST]). The incidence of elevations of ALT or AST above 5 times and 3 times the upper limit of normal (ULN) was 16% and 31%, respectively, in patients treated with SKYCLARYS. There were no cases of concomitant elevation of transaminases and total bilirubin observed. Maximum increases in ALT and AST occurred within 12 weeks after starting SKYCLARYS. Increases in serum aminotransferases were generally asymptomatic and reversible following discontinuation of SKYCLARYS
  • Monitor ALT, AST, and total bilirubin prior to initiation of SKYCLARYS, every month for the first 3 months of treatment, and periodically thereafter. If transaminases increase to levels greater than 5 times the ULN, or greater than 3 times the ULN with evidence of liver dysfunction (e.g., elevated bilirubin), immediately discontinue SKYCLARYS and repeat liver function tests as soon as possible. If transaminase levels stabilize or resolve, SKYCLARYS may be reinitiated with an appropriate increased frequency of monitoring of liver function
 

Elevation of B-Type Natriuretic Peptide

  • Treatment with SKYCLARYS can cause an increase in B-type natriuretic peptide (BNP), a marker of cardiac function. A total of 14% of patients treated with SKYCLARYS had an increase from baseline in BNP value above the ULN (100 pg/mL), compared to 4% of patients who received placebo. The incidence of elevation of BNP above 200 pg/mL was 4% in patients treated with SKYCLARYS. Cardiomyopathy and cardiac failure are common in patients with Friedreich ataxia. Whether the elevations in BNP are related to SKYCLARYS or cardiac disease associated with Friedreich ataxia is unclear
  • Elevations in BNP may indicate cardiac failure and should prompt an evaluation of cardiac function. Check BNP prior to initiation of SKYCLARYS. Monitor patients for the signs and symptoms of fluid overload, such as sudden weight gain (3 pounds or more of weight gain in one day, or 5 pounds or more of weight gain in a week), peripheral edema, palpitations, and shortness of breath. If signs and symptoms of fluid overload develop, worsen, or require hospitalization, evaluate BNP and cardiac function, and manage appropriately. Management of fluid overload and heart failure may require discontinuation of SKYCLARYS
 

Lipid Abnormalities

  • Treatment with SKYCLARYS can cause changes in cholesterol. In Study 1, 29% of patients treated with SKYCLARYS reported elevated cholesterol above ULN at one or more time points. Mean increases were observed within 2 weeks of initiation of SKYCLARYS and returned to baseline within 4 weeks of discontinuing treatment. A total of 16% of patients treated with SKYCLARYS had an increase in low-density lipoprotein cholesterol (LDL-C) from baseline, compared to 8% of patients who received placebo. The mean increase in LDL-C for all SKYCLARYS treated patients was 23.5 mg/dL at 48 weeks. A total of 6% of patients treated with SKYCLARYS had decreases in high-density lipoprotein cholesterol (HDL-C) from baseline compared to 4% of patients who received placebo. The mean decrease in HDL-C for all SKYCLARYS-treated patients was 5.3 mg/dL at 48 weeks
  • Assess lipid parameters prior to initiation of SKYCLARYS and monitor periodically during treatment. Manage lipid abnormalities according to clinical guidelines
 

ADVERSE REACTIONS

  • The most common adverse reactions in Study 1 (≥20% and greater than placebo) were elevated liver enzymes (AST/ALT), headache, nausea, abdominal pain, fatigue, diarrhea, and musculoskeletal pain.
 

DRUG INTERACTIONS

  • Avoid concomitant use of SKYCLARYS with moderate or strong CYP3A4 inhibitors. If use cannot be avoided, dosage modifications are recommended
  • Avoid concomitant use of SKYCLARYS with moderate or strong CYP3A4 inducers
  • Refer to the prescribing information for dosing instructions for concomitant use of CYP3A4 and CYP2C8 substrates and monitor for lack of efficacy of the concomitant treatment
  • Advise patients to avoid concomitant use with combined hormonal contraceptives, implants, and progestin only pills
 

SPECIFIC POPULATIONS
Pregnancy

  • There is a pregnancy exposure registry that monitors pregnancy outcomes in women exposed to SKYCLARYS during pregnancy. Healthcare providers are encouraged to enroll pregnant patients, or pregnant women may register themselves in the program by calling 1-866-609-1785 or by sending an email to SkyclarysPregnancySurveillance@ppd.com
  • There are no adequate data on the development risks associated with the use of SKYCLARYS in pregnant women
 

Lactation

  • There are no data on the presence of omaveloxolone or its metabolites in human milk. The effects on milk production and the breastfed infant are unknown. The developmental and health benefits of breastfeeding should be considered along with the mother’s clinical need for SKYCLARYS and any potential adverse effects on the breastfed infant from SKYCLARYS or from the underlying maternal condition
 

Hepatic Impairment

  • Avoid treatment with SKYCLARYS in patients with severe hepatic impairment, including those who develop severe hepatic impairment
  • Reduced dosage in patients with moderate hepatic impairment with close monitoring for adverse reactions is recommended
 

Please see full Prescribing Information.

References

1. 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. 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. 3. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-257. 4. National Organization of Rare Disorders. Friedreich’s ataxia. Revised October 4, 2023. Accessed February 13, 2025. https:// rarediseases.org/rare-diseases/friedreichs-ataxia/. 5. Donoghue S, Martin A, Larkindale J, Farmer J. A meta-analysis study to evaluate time to diagnosis of Friedreich’s ataxia in the U.S. Friedreich’s Ataxia Research Alliance; 2018. 6. Rummey C, Farmer JM, Lynch DR. Predictors of loss of ambulation in Friedreich’s ataxia. EClinicalMedicine. 2020;18:100213. 7. 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.

Intended for a US HCP audience.
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