Ataxia Telangiectasia Market

• The apparent rise in ataxia telangiectasia cases may be attributed to improved awareness, earlier clinical recognition, and advances in genetic testing that enable more accurate diagnosis. As healthcare systems strengthen rare disease surveillance and families gain better access to specialized care, more individuals are being identified—bringing long-overdue visibility to this complex and underdiagnosed condition.
• Our secondary analysis indicates that approximately 1% of the US population carries a mutation in the ATM gene, suggesting a notable carrier frequency. This prevalence underscores the potential for autosomal recessive transmission of ataxia telangiectasia.
• Ataxia telangiectasia presents a significant unmet medical need, as there are currently no approved therapies specifically targeting the disease. Treatment remains largely supportive, focusing on symptom management rather than modifying disease progression. This highlights the urgent need for innovative, disease-modifying therapies that can address the underlying pathology and improve long-term outcomes for affected individuals.
• While the current ataxia telangiectasia pipeline remains relatively limited, the market is showing momentum. Companies such as Quince Therapeutics and IntraBio, among others are actively advancing candidates through key developmental stages, signaling renewed interest in the field.
• As of June 2025, Quince Therapeutics reported that its Phase III NEAT (Neurologic Effects of EryDex on Subjects with Ataxia Telangiectasia) trial for ataxia telangiectasia has surpassed 75% enrollment. A total of 65 out of the targeted 86 participants (ages 6–9) have been randomized in this pivotal study evaluating eDSP. This Phase III study is being conducted under a Special Protocol Assessment (SPA) agreement with the US FDA, reflecting regulatory alignment on the trial’s design and endpoints. 
• Assuming favorable outcomes from the Phase III NEAT trial, Quince Therapeutics intends to submit a New Drug Application (NDA) to the US FDA in the second half of 2026.
• As several therapies progress toward potential regulatory approvals between 2025 and 2034, the therapeutic landscape is expected to broaden significantly, supported by a healthy compound annual growth rate (CAGR).

DelveInsight’s comprehensive report titled “Ataxia Telangiectasia — Market Insights, Epidemiology, and Market Forecast – 2034” offers a detailed analysis of Ataxia Telangiectasia. The report presents historical and projected epidemiological data covering prevalent cases of ataxia telangiectasia, diagnosed prevalent cases of ataxia telangiectasia, and treated cases of ataxia telangiectasia. In addition to epidemiology, the market report encompasses various aspects related to the patient population. These aspects include the diagnosis process, prescription patterns, physician perspectives, market accessibility, treatment options, and prospective developments in the market across seven major markets: the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan, spanning from 2020 to 2034.

The report analyzes the existing treatment practices and unmet medical requirements in Ataxia Telangiectasia. It evaluates the market potential and identifies potential business prospects for enhancing therapies or interventions. This valuable information enables stakeholders to make well-informed decisions regarding product development and strategic planning for the market.

Ataxia Telangiectasia Overview

Ataxia telangiectasia is a rare, autosomal recessive neurodegenerative disorder with onset in early childhood, caused by mutations in the ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22–23. These mutations lead to a spectrum of neurological and systemic manifestations. The hallmark clinical features include progressive cerebellar ataxia and characteristic telangiectasias, particularly in the oculocutaneous regions. Neurological impairment typically becomes apparent as children begin to sit and walk, with truncal instability serving as an early indicator. Additional neurological signs encompass dysarthria, oculomotor apraxia, extrapyramidal features, axonal neuropathy, and cognitive decline. Systemically, A-T is associated with immunodeficiency, endocrine dysfunction, and a heightened risk of malignancy, underscoring its complex multisystem involvement.

Ataxia Telangiectasia Diagnosis and Treatment Overview 

Diagnosing ataxia telangiectasia can be particularly challenging due to its rarity and broad clinical spectrum. Diagnosis typically relies on a combination of clinical evaluation and supportive findings from neuroimaging, laboratory investigations, and genetic testing. Key diagnostic indicators include the presence of cerebellar ataxia, characteristic telangiectasias, and abnormalities detected through ultrasound or magnetic resonance imaging (MRI). Laboratory tests may reveal immunodeficiency or elevated alpha-fetoprotein levels, while definitive confirmation is achieved through identification of pathogenic mutations in the ATM gene. Currently, there is no cure for Ataxia Telangiectasia, and management focuses on symptomatic treatment and complication prevention. Given the multisystem nature of the disease, a coordinated inter professional approach is essential. This includes neurologists, immunologists, geneticists, and other specialists working collaboratively to monitor disease progression, address emerging symptoms, and provide comprehensive care aimed at improving quality of life and mitigating long-term complications.

Ataxia Telangiectasia Epidemiology

The epidemiology section of the ataxia telangiectasia market report offers information on the patient populations, including historical and projected trends for each of the seven major markets. Examining key opinion leader views from physicians or clinical experts can assist in identifying the reasons behind historical and projected trends. The diagnosed patient pool, their trends, and the underlying assumptions are all included in this section of the report.

This section also presents the data with relevant tables and graphs, offering a clear and concise view of the prevalence of ataxia telangiectasia. Additionally, the report discloses the assumptions made during the analysis, ensuring data interpretation and presentation transparency. This epidemiological data is valuable for understanding the disease burden and its impact on the patient population across various regions.

Key Findings

• Based on data from our secondary analysis, the prevalence of ataxia telangiectasia in Europe is estimated to be approximately 1 in 150,000 individuals. 
• Secondary analysis estimates the prevalence of ataxia telangiectasia in Japan at approximately 1 in 100,000 individuals.

Ataxia Telangiectasia Market Outlook

The ataxia telangiectasia therapeutics market is further expected to increase by the major drivers, such as the rising prevalent population, technological advancements, and upcoming therapies in the forecast period [2025–2034].

Ataxia telangiectasia currently lacks any approved disease-modifying therapies, representing a significant unmet medical need. Management is primarily supportive, aimed at alleviating symptoms and preventing complications, rather than altering disease progression. The absence of approved treatments underscores the urgent need for targeted therapies that address the underlying genetic and neurodegenerative mechanisms of Ataxia Telangiectasia. In clinical practice, several off-label therapies are employed to manage specific symptoms. These include antioxidants such as N-acetylcysteine and vitamin E, which are used in an attempt to reduce oxidative stress. Immunoglobulin replacement therapy is administered in patients with immunodeficiency to prevent recurrent infections. Agents like amantadine or baclofen may be used to manage movement disorders, while physical and occupational therapy support motor function and daily living. Despite these interventions, their efficacy remains limited and largely symptomatic, highlighting the critical need for robust clinical research and the development of novel, disease-targeted treatments for ataxia telangiectasia.

With ongoing research and continued dedication, the future holds hope for even more effective treatments and, ultimately, a cure for this challenging condition. According to DelveInsight, the Ataxia Telangiectasia market in the 7MM is expected to change significantly during the study period 2020–2034.

Ataxia Telangiectasia Drug Chapters 

Emerging Ataxia Telangiectasia Drugs

The Ataxia Telangiectasia market is expected to experience gradual changes, mainly due to the limited availability of emerging therapies in this area. Key market players, including, Quince Therapeutics’ EryDex, and IntraBios’ IB1001, among others, have demonstrated a keen interest in this condition and are actively pursuing the development of potential treatments.

EryDex: Quince Therapeutics 

EryDex (eDSP) developed by Quince Therapeutics is an investigational therapy being developed for ataxia-telangiectasia, a rare pediatric neurodegenerative disease with no approved treatments worldwide. EryDex consists of dexamethasone sodium phosphate (DSP) encapsulated in autologous red blood cells (also referred to as eDSP), aiming to deliver corticosteroid benefits while minimizing the long-term side effects commonly associated with chronic steroid use.

• In January 2025, Quince Therapeutics reported the online publication of safety data in Frontiers in Neurology, detailing outcomes from patients with Ataxia Telangiectasia who received EryDex treatment for a minimum duration of 24 months. 
• The US FDA has granted Fast Track Designation (FTD) to the eDSP System for the treatment of patients with Ataxia Telangiectasia, recognizing its potential to address a serious unmet medical need.
• In addition, the eDSP System has been awarded Orphan Drug Designation (ODD) by both the US FDA and the European Commission, reflecting regulatory support for its development in treating this rare and debilitating condition. 

IB1001: IntraBio

N-Acetyl-L-Leucine (IB1001), developed by IntraBio, is an orally administered, modified amino acid currently with broader development for other neurodegenerative disorders including ataxia-telangiectasia. IB1001 efficiently crosses the blood-brain barrier via monocarboxylate transporters, targeting hallmark neurological dysfunctions such as mitochondrial and lysosomal dysfunction, neuroinflammation, and cellular signaling defects. Once inside cells, it normalizes mitochondrial function, enhances ATP production, reduces oxidative stress, and improves lysosomal function, leading to a reduction in toxic substrate accumulation and improved neuronal health.

• IntraBio has been granted ODD for acetyl-leucine by both the US FDA and the European Commission for the treatment of ataxia telangiectasia.
• The US FDA has granted Rare Pediatric Disease Designation (RPDD) to acetyl-leucine for the treatment of ataxia telangiectasia. This designation highlights the significant unmet medical need in pediatric populations affected by Ataxia Telangiectasia and may qualify the sponsor for priority review and a potential priority review voucher upon future approval, thereby accelerating the development and regulatory pathway for this investigational therapy.

Ataxia Telangiectasia Market Segmentation

DelveInsight’s ‘Ataxia Telangiectasia – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a detailed outlook of the current and future ataxia telangiectasia market, segmented within countries, by therapies, and by classes. Further, the market of each region is then segmented by each therapy to provide a detailed view of the current and future market share of all therapies. 

Ataxia Telangiectasia Market Size by Countries

The ataxia telangiectasia market size is assessed separately for various countries, including the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan. In 2024, the United States held a significant share of the overall 7MM (Seven Major Markets) ataxia telangiectasia market, primarily attributed to the country’s higher prevalence of the condition and the elevated cost of the available treatments. This dominance is projected to persist, especially with the potential early introduction of new products.

Ataxia Telangiectasia Market Size by Therapies

Ataxia telangiectasia Market Size by Therapies is categorized into current and emerging markets for the study period 2020–2034.

Ataxia Telangiectasia Drugs Uptake

This section focuses on the sales uptake of potential ataxia telangiectasia drugs that have recently been launched or are anticipated to be launched in the ataxia telangiectasia market between 2020 and 2034. It estimates the market penetration of ataxia telangiectasia drugs for a given country, examining their impact within and across classes and segments. It also touches upon the financial and regulatory decisions contributing to the probability of success (PoS) of the drugs in the ataxia telangiectasia market.

The emerging ataxia telangiectasia therapies are analyzed based on various attributes such as safety and efficacy in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the ataxia telangiectasia market.

Note: Detailed assessment of drug uptake and attribute analysis will be provided in the full report on ataxia telangiectasia.

Ataxia Telangiectasia Market Access and Reimbursement

DelveInsight’s ‘Ataxia Telangiectasia – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a descriptive overview of the market access and reimbursement scenario of ataxia telangiectasia.

This section includes a detailed analysis of the country-wise healthcare system for each therapy, enlightening the market access, reimbursement policies, and health technology assessments. 

KOL Views

To keep up with current Ataxia Telangiectasia market trends and fill gaps in secondary findings, we interview KOLs and SMEs’ working in the ataxia telangiectasia domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns or Ataxia Telangiectasia market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the Ataxia Telangiectasia unmet needs.

Ataxia Telangiectasia: KOL Insights

DelveInsight’s analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as New York University, US, Goethe University, Frankfurt/Main, Germany, University of Pisa, 56126 Pisa, Italy, Italian National Institute of Health, Rome, Italy, among others.

"Autopsy cases of ataxia telangiectasia mainly report degeneration of the cerebellar cortex. Purkinje cells and granular cells are especially affected. As ataxia telangiectasia progresses, degeneration of other parts of the brain (specifically the brainstem) and the posterior and anterior horns of the spinal cord, develops." 

"Ataxia often presents in early childhood and is heralded by truncal instability as an affected child begins to sit and walk. A plethora of associated neurological and systemic signs and symptoms characterize ataxia telangiectasia: neurologically, dysarthria, oculomotor apraxia, extrapyramidal symptoms, axonal neuropathy, and cognitive impairment are common; more broadly, individuals with ataxia telangiectasia can experience immunological and endocrine abnormalities, and their risk of neoplastic disease is elevated." 

"In ataxia telangiectasia, overall survival may be enhanced through vigilant medical care and regular surveillance to prevent recurrent infections and enable early detection of mass lesions. With consistent monitoring and supportive interventions, individuals with the classical form of ataxia telangiectasia often live into early adulthood, despite the progressive nature of the disease."

Note: Detailed assessment of KOL Views will be provided in the full report on ataxia telangiectasia.

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the ataxia telangiectasia. Market, utilizing various Competitive Intelligence tools such as SWOT analysis and Market entry strategies. The inclusion of these analyses is contingent upon data availability, ensuring a comprehensive and well-informed assessment of the market landscape and competitive dynamics.

Ataxia Telangiectasia Pipeline Development Activities

The report offers an analysis of therapeutic candidates in Phase II and III stages and examines companies involved in developing targeted therapeutics for ataxia telangiectasia. It provides valuable insights into the advancements and progress of potential treatments in clinical development for this condition.

Pipeline Development Activities

The report covers information on collaborations, acquisition and merger, licensing, patent details, and other information for emerging ataxia telangiectasia therapies.

Ataxia Telangiectasia Report Insights

• Ataxia Telangiectasia Patient Population
• Therapeutic Approaches
• Ataxia Telangiectasia Pipeline Analysis
• Ataxia Telangiectasia Market Size and Trends
• Ataxia Telangiectasia Market Opportunities
• Impact of Upcoming Therapies

Ataxia Telangiectasia Report Key Strengths

• 10 Years Forecast
• The 7MM Coverage
• Ataxia Telangiectasia Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Ataxia Telangiectasia Market
• Ataxia Telangiectasia Drugs Uptake

Ataxia Telangiectasia Report Assessment

• Ataxia Telangiectasia Current Treatment Practices
• Unmet Needs
• Ataxia Telangiectasia Product Profiles
• Ataxia Telangiectasia Market Attractiveness

Key Questions

• How common is ataxia telangiectasia?
• What are the key findings of ataxia telangiectasia epidemiology across the 7MM, and which country will have the highest number of patients during the study period (2020–2034)?
• What are the currently available treatments for ataxia telangiectasia?
• What are the disease risk, burden, and unmet needs of ataxia telangiectasia?
• At what CAGR is the ataxia telangiectasia market and its epidemiology is expected to grow in the 7MM during the forecast period (2025–2034)?
• How would the unmet needs impact the ataxia telangiectasia market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of ataxia telangiectasia in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?
• Among EU4 and the UK, which country will have the highest number of patients during the forecast period (2025–2034)?
• How many companies are currently developing therapies for the treatment of ataxia telangiectasia?

Reasons to buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the ataxia telangiectasia market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years
• To understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of current treatment in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the attribute analysis section to provide visibility around leading classes.
• Highlights of Access and Reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of Key Opinion Leaders around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.