Clinical Management Guidelines for Friedreich’s Ataxia

FA experts from around the world have written FA Clinical Management Guidelines (also known as FRDA) for reference use by physicians and patients. This project, led by Dr. Louise Corben, is the culmination of the efforts of a 12-person steering committee, 70 expert authors, and an 11-person patient and caregiver panel.

The Guidelines website is organized into topic chapters with lay summaries, best practice statements, links to the evidence, and recommendations for each topic. Some of the topics include: neurological components, mental health, emergency medicine, fatigue, orthopedic issues, endocrine & metabolism, the heart and cardiovascular system.

They are made available as general information only and do not constitute medical advice.

Access the Guidelines
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Genetic Diagnosis

Clinicians who suspect a diagnosis of FA should confirm this through genetic testing from a certified clinical grade laboratory. It is important to note that many genetic tests for FA are repeat expansion analyses of the first intron of the FXN gene, and thus can only detect abnormal GAA repeat expansions, not the less common point mutations, insertions, or deletions found in about 4% of affected individuals. If genetic testing for a patient with suspected FA returns with a repeat expansion detected on only one allele, further testing that sequences the whole FXN gene may be warranted.

Genetic testing should be performed by an accredited laboratory. The NIH Genetic Testing Registry is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost. You can search this registry for CLIA approved laboratories.

Repeat Expansion Lengths

The length of the GAA repeat expansion determines whether someone is affected by FA:

  • 3-33 – unaffected
  • 34-65 – premutation
  • 66-1700 – diagnostic for FA when biallelic or compound heterozygous with a point mutation, deletion, or insertion on the other allele.

Longer GAA repeat expansions correlate with earlier disease, increased severity of symptoms, and earlier death.

Genetic Counseling Considerations

FA is an autosomal recessive disease with prevalence in Europe, North America, South America, North Africa, the Middle East, South Asia, and Australasia. FA is very rare in sub-Saharan African populations and the Far East. The prevalence is highest and best characterized in those of European origin, ~ 1 in 50,000, and a carrier frequency of 1 in 90 individuals.

Carrier testing is recommended for anyone with a positive family history of Friedreich ataxia and for partners of known carriers. Pre-symptomatic testing for at-risk siblings or relatives is available, however, genetic counseling is strongly recommended to assist individuals/families in considering the risks versus benefits of testing a genetic condition with one recently approved treatment that is not available yet globally. Visit the FA Clinical Care Guidelines to learn more about best practices for genetic counseling and testing.

Treatments for Friedreich’s Ataxia

The first treatment for FA, SKYCLARYS®, was approved by the FDA (Food & Drug Administration) in the United States in 2023 for the treatment of people with FA, age of 16 and older. SKYCLARYS is a once daily oral medication that has been shown to slow progression of FA symptoms in a clinical trial.

To access SKYCLARYS, physicians initiate a Start Form via More information about SKYCLARYS is available on the Approved Treatment page.

Other therapeutics are needed to slow, stop, reverse, and cure FA. FARA believes in a cocktail approach—a combination of two or more therapies. Several potential future treatments for FA are currently being investigated.  You can find information about these potential treatments on the FADrug Development Pipeline pages.

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The FA Global Clinical Consortium (FA GCC)

The FA GCC is an international network of clinical research centers that work together to advance treatments and clinical care for individuals with Friedreich's Ataxia.

The FA GCC can assist health care professionals in offering their patients access to clinical research studies in FA. The investigators and coordinators at each of the sites can work collaboratively with other health care professionals to provide guidance on updates in clinical care and management for their patients. It is common for individuals with FA to see specialists or experts in FA once a year at a hospital or clinic far away from home and then have local physicians who manage things based on the FA expert recommendations.

The investigators and coordinators at each of the sites can work with you to provide guidance on updates in clinical care and management for your patients.

More about the FA GCC
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Learn about the latest in FA clinical trials and connect with the FA community


Enroll in the FA Global Patient Registry

The FA Global Patient Registry notifies the registrants of relevant clinical trials. This is an excellent way to stay informed about new research opportunities.


Explore FARA’s Clinical Trial Finder

Use the clinical trials finder tool to find an enrolling clinical trial or research study that is a match for your patient.


Connect to a community of support and hope

Many people with rare disease struggle with feelings of loneliness and isolation. Connecting to a community that understands the challenges of living with FA can be a supportive resource for your FA patients.