Friedreich's Ataxia (FRDA)

Medical Management

Multidisciplinary care of individuals with Friedreich’s ataxia (FRDA) can help manage symptoms and improve overall health. Treatment is based on each person’s symptoms and may include:

• Cardiac care: use of medications, anticoagulants, and implanted devices (e.g., pacemaker) to reduce the risk of heart disease or failure
• Nutrition: dietary modification or use of feeding tube to manage dysphagia
• Occupational therapy: design of a safe home and work environment
• Orthopedic interventions: surgical and non-surgical interventions to manage scoliosis and foot deformities
• Pharmacological intervention: use of agents such as baclofen and botulinum toxin to manage spasticity and/or bladder dysfunction
• Psychological care: counseling and/or pharmacologic support for individuals with FRDA and family members
• Pulmonary care: continuous positive airway pressure (CPAP) to manage sleep apnea
• Rehabilitation medicine: prostheses, walking aids, wheelchairs, and physical therapy to maintain an active lifestyle
• Speech therapy and/or assistive devices: to augment communication ability
• Treatment of diabetic complications: dietary modification, medication to manage hypoglycemia, insulin

Care recommendations developed by physician and scientist experts in FRDA (Corben, et al., 2022) are available to guide clinicians in evidence-based treatment of people living with FRDA.

In addition to symptom management, new therapeutics offer hope for people living with FRDA. On Feb. 28, 2023, the US Food and Drug Administration (FDA) granted approval to omaveloxolone (SKYCLARYS™) for the treatment of FRDA in adults and adolescents aged 16 years and older. Skyclarys is available in the United States (US) and marketed by Reata Pharmaceuticals. Skyclarys is a small molecule drug that activates the Nrf2 transcription factor, and is thought to trigger a cell program that helps resolve inflammation and restore mitochondrial function in the cells of people with FRDA.

Drugs that may reverse abnormal cell processes that occur in FRDA and that target the genetic defect in FRDA are also in development. To learn more, see Research.

References

1. Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. PMID: 36371255; PMCID: PMC9652828.