Leading companies in the Fragile X syndrome space include Zynerba Pharmaceuticals, Confluence Pharmaceuticals, Tetra Therapeutics, Neuren Pharmaceuticals, Healx, Nova Mentis Life Science, and others.
In 2023, there were around 122,000 diagnosed prevalent cases of Fragile X syndrome (FXS) across the 7MM, with the US accounting for 58% of cases, EU4 and the UK for 31%, and Japan for 11%.
The Fragile X syndrome market is expected to grow steadily at a CAGR of approximately 7% from 2024 to 2034, driven by emerging therapies such as Zygel and BPN14770, advancements in diagnostics, and ongoing research targeting the genetic basis of the disorder.
However, the market faces significant challenges, including the lack of approved treatments for core symptoms, diagnostic delays, high clinical trial failure rates due to patient heterogeneity, and regulatory complexities. Despite these hurdles, competition is intensifying, supported by orphan drug designations, active clinical development programs, and strategic collaborations. Notably, Zatolmilast received US FDA Fast Track designation in July 2024, accelerating its development for Fragile X syndrome.
DelveInsight’s “Fragile X Syndrome Market Insights, Epidemiology, and Market Forecast – 2034” report offers a comprehensive analysis of Fragile X syndrome, including detailed insights into historical and projected epidemiological data, along with market trends across the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
The report outlines existing treatment approaches, highlights emerging therapies, and evaluates the market share of individual drugs. It also presents the current and projected Fragile X syndrome market size across the 7MM from 2020 to 2034. Additionally, it examines treatment pathways and identifies key unmet medical needs to help uncover growth opportunities and evaluate the overall market potential.
To Know in detail about the Fragile X Syndrome market outlook, drug uptake, treatment scenario and epidemiology trends, Click here; Fragile X Syndrome Market Forecast
Some of the key facts of the Fragile X Syndrome Market Report:
- Over the forecast period from 2024 to 2034, Fragile X Syndrome market is projected to grow at a CAGR of approximately 7%.
- In January 2026, Enthorin Therapeutics announced that its licensing partner, Mirum Pharmaceuticals, initiated the BLOOM Phase II clinical study of MRM-3379 (previously ENT-3379) in December for the treatment of Fragile X syndrome.
- In December 2025, Mirum Pharmaceuticals entered into a definitive agreement to acquire Bluejay Therapeutics, securing global rights to brelovitug, a late-stage monoclonal antibody with Breakthrough Therapy and PRIME designations for chronic hepatitis delta virus. This acquisition is expected to reinforce Mirum’s rare liver disease portfolio, strengthen its position in rare diseases, and add another potential registrational milestone within 18 months.
- In February 2025, Spinogenix announced topline data from its Phase II trial evaluating SPG601 in adult male patients with Fragile X syndrome. The randomized, placebo-controlled study compared a single dose of SPG601 with placebo in ten adult men displaying key FXS traits.
- Also in February 2025, results from a Phase 2a placebo-controlled study showed that a single oral dose of SPG601 significantly reduced abnormal brain activity in men with FXS. These findings were presented at the NIH Fragile X Centers of Excellence Update.
- In November 2024, Mirum’s CEO Chris Peetz highlighted strong Q3 performance, growth across its commercial portfolio, progress in its clinical pipeline—including breakthrough designation for volixibat in PBC—and advancement of MRM-3379 into Phase II development for FXS.
- In October 2024, Harmony Biosciences shared pipeline updates at its Investor Day, including new data on orexin-2 receptor agonists and pitolisant programs, as well as updates on acquisitions strengthening its late-stage pipeline in Fragile X syndrome and rare epilepsies.
- In May 2024, Spinogenix announced that the FDA granted Orphan Drug Designation to SPG601 for the treatment of Fragile X syndrome.
- In April 2024, Spinogenix received FDA clearance to begin a Phase II trial of SPG601 for FXS, while the European Commission granted orphan designation to Shionogi’s zatolmilast (BPN14770).
- According to DelveInsight’s epidemiology model, there were approximately 122,000 diagnosed prevalent FXS cases across the 7MM in 2023, with numbers expected to rise during 2024–2034 due to greater awareness, improved screening, and advances in genetic diagnostics.
- In 2023, the United States recorded the highest diagnosed prevalence of FXS at around 71,000 cases, while Spain had the lowest at nearly 5,900 cases.
- Among the EU4 and the UK in 2023, Germany reported the highest number of cases (~9,700), followed by France (~7,900) and the UK (~7,800).
- In the US in 2023, approximately 42,000 males and 29,000 females were diagnosed with FXS, highlighting a higher prevalence among males.
- In Japan in 2023, about 5,700 cases were reported in children aged 0–11, 2,300 cases in adolescents aged 12–17, and 5,000 cases in adults over 18, demonstrating age-based variation in prevalence.
- Leading companies in the Fragile X syndrome space include Zynerba Pharmaceuticals, Confluence Pharmaceuticals, Tetra Therapeutics, Neuren Pharmaceuticals, Healx, Nova Mentis Life Science, and others.
- Prominent therapies under development or investigation for FXS include Zygel, Acamprosate, BPN14770, Trofinetide, Sulindac (HLX-0201), Gaboxadol, ZYN002, Psilocybin, and additional candidates.
- Gender-based epidemiological analysis indicates that Fragile X syndrome affects males more frequently and severely than females.
- The Fragile X syndrome market is poised for growth driven by increasing disease awareness and prevalence, alongside the anticipated launch of multiple late-stage pipeline products that are expected to reshape market dynamics.
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Fragile X Syndrome Overview
Fragile X syndrome is a genetic condition resulting from a mutation in the FMR1 gene located on the X chromosome. It represents the most common inherited cause of intellectual disability and a significant genetic contributor to autism spectrum disorder. The condition predominantly affects males, though females may also experience symptoms, typically in milder forms. Clinical manifestations include developmental delays, cognitive impairment, behavioral issues, anxiety, and characteristic physical traits such as an elongated face, large ears, and hyperflexible joints. While no definitive cure exists, early therapeutic interventions, specialized education, and supportive medications can help manage symptoms and enhance patients’ quality of life
Fragile X Syndrome Epidemiology
In 2023, there were approximately 122,000 diagnosed prevalent cases of Fragile X syndrome across the 7MM, with numbers expected to increase from 2024 to 2034 due to improved awareness, screening, and genetic testing advancements.
The United States reported the highest prevalence with around 71,000 cases, while Spain had the lowest at nearly 5,900 cases. Among the EU4 and the UK, Germany led with about 9,700 cases, followed by France (7,900) and the UK (7,800).
Gender-based analysis in the US showed a higher burden in males (42,000 cases) compared to females (29,000 cases). In Japan, prevalence varied by age group, with approximately 5,700 cases in children (0–11 years), 2,300 in adolescents (12–17 years), and 5,000 in adults (18+) in 2023.
Fragile X Syndrome Epidemiology Segmentation:
The Fragile X Syndrome market report proffers epidemiological analysis for the study period 2020-2034 in the 7MM segmented into:
- Total Prevalence of Fragile X Syndrome
- Prevalent Cases of Fragile X Syndrome by severity
- Gender-specific Prevalence of Fragile X Syndrome
- Diagnosed Cases of Episodic and Chronic Fragile X Syndrome
Download the report to understand which factors are driving Fragile X Syndrome epidemiology trends @ Fragile X Syndrome Epidemiology Forecast
Fragile X Syndrome Drugs Uptake and Pipeline Development Activities
The drugs uptake section focuses on the rate of uptake of the potential drugs recently launched in the Fragile X Syndrome market or expected to get launched during the study period. The analysis covers Fragile X Syndrome market uptake by drugs, patient uptake by therapies, and sales of each drug. Moreover, the therapeutics assessment section helps understand the drugs with the most rapid uptake and the reasons behind the maximal use of the drugs. Additionally, it compares the drugs based on market share.
The report also covers the Fragile X Syndrome Pipeline Development Activities. It provides valuable insights about different therapeutic candidates in various stages and the key companies involved in developing targeted therapeutics. It also analyzes recent developments such as collaborations, acquisitions, mergers, licensing patent details, and other information for emerging therapies.
Fragile X Syndrome Therapies and Key Companies
- Zygel: Zynerba Pharmaceuticals
- Acamprosate: Confluence Pharmaceuticals
- BPN14770: Tetra Therapeutics
- Trofinetide: Neuren Pharmaceuticals
- Sulindac (HLX-0201): Healx
- Gaboxadol: Craig Erickson
- ZYN002: Zynerba Pharmaceuticals
- Psilocybin: Nova Mentis Life Science
Discover more about therapies set to grab major Fragile X Syndrome market share @ Fragile X Syndrome Treatment Market
Fragile X Syndrome Market Strengths
- Growing Research and development are increasing the demand for FXS treatment.
- Advances in DNA technology, including CRISPRCas9, have been used to correct the expanded CGG repeat in induced pluripotent stem cells. Eventually, it might be possible to add these corrected stem cells into the central nervous systems of those with FXS
Fragile X Syndrome Market Opportunities
- The rise in the prevalence of FXS stimulates the research and development of the drug, as it is likely to provide an appropriate environment for newer products to be profitable.
- Increasing population gives a lucrative opportunity to increase the awareness and innovation of therapeutics to drive FXS market.
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Scope of the Fragile X Syndrome Market Report
- Study Period: 2020-2034
- Coverage: 7MM [The United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan]
- Key Fragile X Syndrome Companies: Zynerba Pharmaceuticals, Confluence Pharmaceuticals, Tetra Therapeutics, Neuren Pharmaceuticals, Healx, Craig Erickson, Zynerba Pharmaceuticals, Nova Mentis Life Science, and others
- Key Fragile X Syndrome Therapies: Zygel, Acamprosate, BPN14770, Trofinetide, Sulindac (HLX-0201), Gaboxadol, ZYN002, Psilocybin, and others
- Fragile X Syndrome Therapeutic Assessment: Fragile X Syndrome current marketed and Fragile X Syndrome emerging therapies
- Fragile X Syndrome Market Dynamics: Fragile X Syndrome market drivers and Fragile X Syndrome market barriers
- Competitive Intelligence Analysis: SWOT analysis, PESTLE analysis, Porter’s five forces, BCG Matrix, Market entry strategies
- Fragile X Syndrome Unmet Needs, KOL’s views, Analyst’s views, Fragile X Syndrome Market Access and Reimbursement
About DelveInsight
DelveInsight is a leading Healthcare Business Consultant, and Market Research firm focused exclusively on life sciences. It supports Pharma companies by providing comprehensive end-to-end solutions to improve their performance.
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