Rare Disease Market Heats Up: Gene Therapies Fuel Growth in Friedreich’s Ataxia Treatment

NEW YORK, NY – November 19, 2025

A growing wave of investment and innovation is reshaping the landscape of Friedreich’s Ataxia (FA) treatment, a rare and debilitating genetic disorder. A new report projects significant market expansion over the next decade, fueled by advancements in gene therapy, small-molecule therapeutics, and increasingly sophisticated diagnostic tools. While challenges remain in delivering these treatments to patients, the burgeoning market signals a period of unprecedented hope for individuals and families affected by FA.

The Science Driving the Surge

Friedreich’s Ataxia affects approximately 1 in 50,000 individuals, causing progressive damage to the nervous system, leading to muscle weakness, ataxia, and heart problems. The underlying cause is a deficiency in the frataxin protein, crucial for mitochondrial function. For years, treatment options were limited to managing symptoms. Now, a new generation of therapies are targeting the root cause of the disease, offering the potential to slow or even halt its progression.

“We’re seeing a fundamental shift in how we approach FA,” says one industry analyst. “Early research focused on alleviating symptoms. Now, the focus is on correcting the underlying genetic defect or compensating for the lack of frataxin.”

Gene therapy, in particular, is gaining momentum. Several companies are developing approaches to deliver a functional copy of the FXN gene, responsible for producing the frataxin protein, directly to affected cells. These therapies utilize viral vectors to deliver the genetic payload, and researchers are focusing on optimizing vector design to ensure targeted delivery and minimize immune responses.

Small-molecule therapies also represent a promising avenue. Omaveloxolone, recently approved and marketed as Skyclarys by Biogen, activates the Nrf2 pathway, enhancing the body’s natural antioxidant defenses and mitigating oxidative stress, a key driver of FA pathology. This drug’s approval marked a significant milestone, offering the first disease-modifying treatment for FA. Multiple other small molecules targeting different mechanisms of action are in various stages of clinical development.

Competitive Landscape and Market Dynamics

The FA treatment market is becoming increasingly crowded, with a mix of established pharmaceutical giants and specialized biotech firms vying for market share. Biogen’s acquisition of Reata Pharmaceuticals and its ownership of Skyclarys has positioned it as a leading player. However, competitors like PTC Therapeutics, Voyager Therapeutics, and Retrotope are aggressively pursuing their own therapies, creating a dynamic and competitive landscape.

“The market is heating up, and we’re seeing significant investment from both private and public sources,” notes another industry insider. “Companies are recognizing the potential of this market, and they’re willing to take on the risks associated with developing treatments for rare diseases.”

Currently, North America dominates the FA treatment market, driven by robust research infrastructure, high healthcare expenditure, and favorable regulatory pathways. However, the Asia-Pacific region is expected to experience the fastest growth over the next decade, fueled by increasing awareness, improved diagnostic capabilities, and rising healthcare spending. China, in particular, is emerging as a key market, with a growing patient population and a supportive regulatory environment.

Voyager Therapeutics, in partnership with Neurocrine Biosciences, is taking a unique approach with its gene therapy program, aiming for intravenous administration across the blood-brain barrier. This could simplify treatment delivery and broaden access for patients. PTC Therapeutics is navigating a complex path with vatiquinone, having submitted a New Drug Application despite a recent setback in a Phase 3 trial. They're hoping for approval based on a broader analysis of their data.

The Role of Advocacy and Patient Access

Patient advocacy groups, like the Friedreich’s Ataxia Research Alliance (FARA), are playing a vital role in accelerating research and ensuring access to treatment. FARA funds scientific research, raises awareness, and connects patients with clinical trials. They also advocate for policies that support rare disease drug development. These groups are crucial in bridging the gap between scientific discovery and patient care, and they provide invaluable support to individuals and families affected by FA.

“Advocacy groups are essential,” says a representative from FARA. “They give a voice to the patient community, and they help to ensure that research is focused on the most pressing needs.”

However, despite the advancements in treatment, significant challenges remain. The high cost of gene therapies and the limited availability of specialized care can create barriers to access. Ensuring equitable access to treatment for all patients, regardless of their socioeconomic status or geographic location, is a critical priority. Furthermore, long-term monitoring of patients receiving gene therapies will be essential to assess the durability of treatment effects and manage any potential adverse events.

The future of FA treatment looks promising, but continued investment in research, collaboration between industry and academia, and a commitment to patient access will be essential to realize the full potential of these innovative therapies.