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A person with Friedreich’s ataxia walking along a stone path toward a life-sized book. The path continues into the open book leading the way to a lush, green forest. On the opposite side of the page reads, “In a national survey of physicians who treat patients with Friedreich’s ataxia: 98% agree that addressing the root cause of Friedreich’s ataxia is the next step in advancing treatment. There is more to the story. Looking deeper at Frataxin Deficiency. The next chapter in Friedreich's ataxia (FA). We're committed to advancing the narrative around what's missing of FA.
Tony, 25, living with FA FA advocate. College graduate. Avid reader.

Getting to the root of Friedreich’s ataxia (FA)

In the last few years, there have been advances in the management of FA. However, it’s time to turn the page and focus on the root cause—frataxin deficiency—and the potential of increasing frataxin levels as a therapeutic target.

According to 50 physicians who treat FA, 94 percent agree there are still patient needs that are not being met in FA treatment.

FA at a glance

FA is a rare, progressive disease that affects multiple parts of the body.2

Signs and symptoms of FA include3

A photo of cells circulating in the body against a purple-blue background. An illustration of mitochondrial damage due to frataxin deficiency.

How is FA inherited?

How is Friedreich’s ataxia (FA) inherited?

FA is inherited in a recessive pattern, where a person receives two mutated copies of the frataxin (FXN) gene.4

How many people are affected by FA?

How many people are affected by Friedreich’s ataxia (FA)?

FA affects 1 in every 40,000 people globally, and approximately 5000 in the US.5-7

What is the typical onset of disease?

What is the typical onset of disease?

Symptoms of Friedreich’s ataxia typically appear between the ages of 5 and 20, and sometimes can present in patients as late as in their 60s.2

How is an FA diagnosis confirmed?

How is a Friedreich’s ataxia (FA) diagnosis confirmed?

Genetic tests, such as the Southern blot or PCR, can confirm an FA diagnosis by detecting abnormal GAA repeat expansions.8

What clinicians
are involved in
managing FA?

What clinicians are involved in managing Friedreich’s ataxia (FA)?

Due to the multisystem nature of the disease, managing FA takes a multidisciplinary team, including but not limited to neurologists, cardiologists, endocrinologists, and mental health professionals.9

How is
FA evaluated?

How is Friedreich’s ataxia (FA) evaluated?

There are a variety of tools and assessments used to measure the progression and severity of FA including mobility tests and quality of life assessments.10

Frataxin: the missing protein

Friedreich’s ataxia (FA) is caused by a deficiency in the protein frataxin.2

A photo of cells circulating in the body against a purple-blue background. An illustration of mitochondrial damage due to frataxin deficiency.

Frataxin plays a key role in cellular metabolism and is present in all tissues, including nervous and heart.2 People with FA typically have a reduction in frataxin levels down to 4% to 29% of levels seen in healthy individuals.8 This deficiency leads to oxidative stress, iron maldistribution, iron accumulation, and cellular dysfunction.2,4

A new chapter in Friedreich’s ataxia (FA) is unfolding

Research has revealed the potential of increasing frataxin levels through therapeutic approaches such as frataxin replacement therapy, gene therapy, and small molecule medicine—welcoming a new chapter in FA.

A young man with Friedreich's ataxia riding in a motorized chair on a stone path in a lush, green forest.

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References:

  1. Larimar Therapeutics–sponsored survey, data on file.
  2. Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR. Friedreich ataxia: clinical features and new developments. Neurodegener Dis Manag. 2022;12(5):267-283.
  3. Alliance for Patient Access and Friedreich’s Ataxia Research Alliance. Friedreich’s ataxia: a rare condition facing common access challenges. Patient brochure. Accessed August 18, 2025. https://allianceforpatientaccess.org/wp-content/uploads/2025/02/AFPA-RareWG-FAPaper-Feb2025.pdf.
  4. Ercanbrack WS, Ramirez M, Dungan A, Gaul E, Ercanbrack SJ, Wingert RA. Frataxin deficiency and the pathology of Friedreich’s ataxia across tissues. Tissue Barriers. Published online February 21, 2025. doi:10.1080/21688370.2025.2462357.
  5. Friedreich’s Ataxia Research Alliance. What is Friedreich’s ataxia? Accessed August 19, 2025. https://www.curefa.org/understanding-fa/what-is-friedreichs-ataxia/.
  6. Williams CT, De Jesus O. Friedreich ataxia. In: StatPearls. Updated August 23, 2023. Accessed September 11, 2025. https://www.ncbi.nlm.nih.gov/books/NBK563199/.
  7. Lopez M. Friedreich ataxia (FA). Rare disease advisor. Updated January 16, 2023. Accessed September 11, 2025. https://www.rarediseaseadvisor.com/disease-info-pages/friedreich-ataxia-epidemiology/.
  8. Indelicato E, Delatycki MB, Farmer J, et al. A global perspective on research advances and future challenges in Friedreich ataxia. Nat Rev Neurol. 2005;21(4):204-215.
  9. Friedreich’s Ataxia Research Alliance. Assemble a care team. Understanding FA. Accessed August 18, 2025. https://www.curefa.org/understanding-fa/managing-fa/#care.
  10. National Institute of Neurological Disorders and Stroke. Friedreich ataxia. National Institutes of Health. Updated June 9, 2025. Accessed August 18, 2025. https://www.ninds.nih.gov/health-information/disorders/friedreich-ataxia.