GLOBAL LEIGH SYNDROME TREATMENT MARKET SIZE AND SHARE ANALYSIS - GROWTH TRENDS AND FORECASTS (2024-2031)

The global Leigh syndrome treatment market size was valued at US$ 272.9 Million in 2024 and is expected to reach US$ 429.8 Million by 2031, growing at a Compound Annual Growth Rate (CAGR) of 6.7% from 2024 to 2031.

Leigh Syndrome Treatment Market Regional Insights

• North America has dominated the global Leigh syndrome treatment market for several years owing to a strong presence of industry leaders and high patient awareness. The U.S. accounts for the majority of the market share in the region due to the concentration of top pharmaceutical companies and generics manufacturers. Furthermore, the region is an attractive market due to its developing reimbursement programs, high diagnosis rates assisted by advanced healthcare facilities, and rising healthcare expenditure. However, the market is witnessing price erosion pressures due to an increase in volume-based procurement by hospitals and insurance companies.
• The Asia Pacific region has emerged as the fastest growing market for Leigh syndrome treatment globally. China and India are the key contributors to the market growth in Asia Pacific. This can be attributed to rising healthcare investments by governments, expansion of private healthcare facilities, and growing medical tourism industry. In particular, China holds immense scope of growth opportunities as the country is focusing on enhancing local production capabilities through joint ventures and acquisitions. This has led to the growing significance of local manufacturers who provide products at competitive rates. Additionally, lack of stringent regulations compared to developed regions has facilitated the market penetration of generics at a faster pace in Asia Pacific.
• Europe is anticipated to show moderate growth owing to unfavorable economic conditions affecting healthcare budgets. While countries like the U.K., France, Germany, and Italy continue to be major revenue generators, pricing challenges, and discounts prevail due to strong government interventions. Moreover, the regional market is facing headwinds due to rising complexities associated with Brexit and cross-country variations in drug approvals. On the other hand, the market is benefitting from increasing collaborations among leading universities for research on novel treatment options.

Figure 1. Global Leigh Syndrome Treatment Market Share (%), By Region, 2024

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Analyst’s Views

The global Leigh syndrome treatment market looks promising over the long run due to the rising prevalence of this rare genetic neurological disorder. Major drivers include growing research efforts for developing improved treatment options and patient awareness programs by non-profit foundations worldwide. The market currently has limited treatment choices and most therapies only manage symptoms.

Leigh Syndrome Treatment Market Drivers:

• Increased Awareness and Diagnosis Rates: The global Leigh syndrome treatment market is expected to experience significant growth due to rising awareness and improving diagnosis rates of the disease worldwide. More education regarding the signs and symptoms of Leigh syndrome is enabling at-risk individuals to recognize potential symptoms at an early stage. This allows for timely medical evaluation and testing to confirm a diagnosis. Furthermore, advances in genetic testing techniques have made the diagnosis process more efficient. Where previous diagnosis could take months or years of evaluation by multiple specialists, today a single genetic test can often provide a definitive diagnosis within weeks. As awareness increases community screening programs for at-risk populations, such as newborns, are also becoming more common. This is resulting in earlier diagnosis and intervention in more cases. With an early confirmed diagnosis, treatment can be initiated promptly to help slow the disease progression. All of these factors combined are helping identify more Leigh syndrome patients globally each year, thus expanding the potential patient pool for Leigh syndrome treatments.
• Promising Drug Pipeline and Clinical Trials: The global Leigh syndrome treatment market is also witnessing strong growth prospects due to the emergence of a promising pipeline of drug candidates and ongoing clinical trials. While currently the only U.S. Food and Drug Administration-approved treatment for Leigh syndrome is coenzyme Q10, researchers are actively exploring new therapies that target the underlying biochemical defects. Several biotech companies have drug candidates in early to mid-stage clinical testing that aim to boost mitochondrial energy production, replace missing enzyme functions, or reduce toxic metabolite accumulation in patients. The completion of these trials over the coming years and potential approval of new drugs could create significant demand. Furthermore, the orphan drug designation by regulatory agencies for many of these candidates indicates support for research and market exclusivity incentives on approval. The success of clinical programs could translate into new treatment options desperately needed by Leigh syndrome patients and families worldwide. The exciting developments in the research space are boosting investor interest and industry commitment to advance more effective therapies for this rare disease.
• Emerging Markets in Developing Countries: Emerging markets in developing countries are playing a significant role in driving the growth of the global Leigh syndrome treatment market. Leigh syndrome is a rare genetic neurological disorder that affects the central nervous system. It typically presents in infants and children, and can be fatal if left untreated. As standards of living have improved in low- and middle-income nations over the past decade, more patients are seeking accurate diagnosis and medical management for previously unknown or untreated conditions like Leigh syndrome. Governments are also allocating increased healthcare budgets to expand access to advanced treatments domestically.

Leigh Syndrome Treatment Market Opportunities:

• Increasing Research on Chronic Diseases: There is great opportunity for combination therapies to be explored further in the Leigh syndrome treatment market. Currently, treatment approaches tend to focus on managing individual symptoms but combination therapies could take a multi-targeted approach to more comprehensively treat the underlying mitochondrial dysfunction. Pairing existing treatments that target different metabolic pathways and symptoms has the potential to provide synergistic effects. For example, preliminary research suggests co-administration of metabolic supplements like riboflavin, coenzyme Q10, and creatine with conventional medications may help maximize energy production and minimize oxidative damage caused by Leigh syndrome. Larger clinical studies are still needed but initial studies on the combination of metabolic therapies show promise in stabilizing mitochondrial abnormalities observed in patients. Advancements in gene therapy and stem cell research also open up possibilities for combinatorial strategies in the future. Pairing gene supplements to enhance downstream metabolic pathways with gene editing tools to fix genetic mutations could offer prolonged treatment benefits compared to single agent therapies. Combining gene therapy directly targeting the genetic defect with supportive cell-based therapies using induced pluripotent stem cells may help compensate for cellular dysfunction long term. Continued research on human cellular models of Leigh syndrome will be important to test viability and safety of various combination approaches.
• Increasing Research Activities for Novel Treatment Options: Increasing research activities for novel treatment options could provide substantial opportunities in the global Leigh syndrome treatment market. Leigh syndrome is a rare and progressive neurological disorder with no approved disease-modifying treatment currently available. As per estimates by the National Institute of Neurological Disorders and Stroke (NINDS), Leigh syndrome affects approximately 1 in 40,000 individuals worldwide. With such a low prevalence but devastating disease impact, developing more targeted and effective treatment solutions holds huge significance. As research into precision medicine accelerates and more investment flows into orphan drug R&D, it is likely that the first disease-modifying therapies for Leigh syndrome would be approved within the next 5 years. This would drive major growth in the market by meeting the large unmet needs. It is also expected that a rising diagnosis rate due to improved newborn screening protocols and more specialized healthcare services being available globally would augment the patient pool requiring long-term care. Thus, advancing the treatment landscape from largely symptomatic options presently to targeted and disease-modifying solutions in future holds significant promise to positively influence the market’s expansion trajectory.

Leigh Syndrome Treatment Market Trends:

• Growing Demand for Orphan Drugs: Pharmaceutical companies and research institutes have already begun ramping up their commitment towards Leigh syndrome drug development programs. For example, Nutra Pharma Corp, a biotechnology company, is conducting phase 2 clinical trials for its lead drug candidate NP001 as a treatment for Leigh syndrome and related mitochondrial disorders. Similarly, small biotech firms like ProQR and Imcyse NV are exploring novel gene therapy and pharmacological approaches through preclinical research partnerships. Genetic research initiatives like undiagnosed diseases network are also helping uncover more disease-causing gene mutations and pathways, providing crucial insights for therapeutic development.
• Developing Healthcare Infrastructure: The development of healthcare infrastructure can significantly drive the growth of the global Leigh syndrome treatment market by improving patient outcomes and expanding the accessibility to diagnosis and treatments for rare diseases like Leigh syndrome. Here are some factors by which developing healthcare infrastructure can contribute to the market growth:
• Increased Accessibility to Specialist Care: Improved infrastructure can lead to more specialized clinics and hospitals equipped to handle complex cases of rare diseases like Leigh syndrome. This can enhance early detection and ongoing care.
• Advanced Diagnostic Tools: A robust healthcare infrastructure often includes access to advanced diagnostic equipment and laboratories capable of performing the necessary genetic and metabolic testing to diagnose Leigh syndrome accurately.
• Research and Development Investments: Developing infrastructure often involves investments in research centers and university hospitals, which can lead to increased research into Leigh syndrome, potentially uncovering new treatments and understanding of the disease

Leigh Syndrome Treatment Market Restraints:

• High Cost of Treatment: The high cost of treatment is one of the major factors restraining the growth of the global Leigh syndrome treatment market. Leigh syndrome is a rare genetic disorder that affects the central nervous system. It requires patients to undergo extensive treatments including physiotherapy, medicines, specialty foods, and in some severe cases, stem cell transplants. All of these treatment options come with a huge financial burden. Most of the drugs and therapies available for Leigh syndrome are imported from other countries as there are very few facilities for specialized treatment within many nations. This makes the imported drugs and therapies extremely costly. For example, a report by the United Mitochondrial Disease Foundation estimates that the monthly cost of medicines alone for a Leigh syndrome patient in the U.S. can range from US$ 2,000 to US$ 10,000 depending on the severity.
• Lack of Approved Drugs: The lack of approved drugs is significantly hampering the growth of the global Leigh syndrome treatment market. Leigh syndrome is a rare genetic neurological disorder which affects the central nervous system. As of now, there are no approved drugs specifically meant for the treatment of Leigh syndrome. The existing treatment options are very limited and primarily involve administering specific supplements, maintaining breathing support through a tracheostomy or ventilator, and treating symptoms to provide relief. Without any approved drugs that can effectively treat the underlying causes and slow the progression of the disease, it poses a massive challenge for patients, caregivers and the overall healthcare system. This absence of effective pharmaceutical treatment options means the needs of Leigh syndrome patients continue to remain largely unmet. As the disease progresses, patients usually experience deterioration of physical abilities and many have a substantially shortened lifespan. The lack of approved therapeutics indicates a critical unavailability of targeted therapies that can alter the course of the disease. The pipeline for new drugs remains limited as well with only a handful of candidates in early stages of development and testing. Pharmaceutical companies have shown little interest as the orphan condition has a very small patient base which offers limited commercial returns.

Recent Developments

Product Designation

• On December 14, 2023, Abliva AB, a clinical-stage company developing medicines for the treatment of rare and severe primary mitochondrial disease, announced that the European Commission had granted orphan designation for the company’s drug candidate NV354 for the treatment of Leigh syndrome, facilitating its clinical development in neurological mitochondrial disease.
• On September 14, 2023, Cannabidiol had been given orphan drug designation by the European Medicines Agency (EMA) to be used in the treatment of Leigh syndrome, a rare mitochondrial disease. The decision comes after a petition made by researchers from the Mitochondrial Neuropatology research group at the UAB Institut de Neurociències (INc-UAB) Emma Puighermanal, Albert Quintana and Elisenda Sanz.

Business Development Activities by Market Players

• On June 29, 2023, PTC Therapeutics, Inc., a pharmaceutical company, announced that the MIT-E trial of vatiquinone for the treatment of mitochondrial disease associated seizures (MDAS) failed to achieve its primary endpoint of reduction in observable motor seizures. The study showed evidence of treatment effect in reducing seizure frequency in the overall study population and in the largest subgroup of children with Leigh syndrome, in whom benefit was also observed in the key secondary endpoints of occurrence of status epilepticus and disease-related hospitalizations.
• On June 5, 2023, Cure Mito Foundation, a parent-led organization dedicated to advancing research and treatments for Leigh syndrome, launched the first-of-its-kind online resource about Leigh syndrome, the most common type of pediatric mitochondrial disease. The free resource, “About Leigh Syndrome,” serves as a central place where patients, caregivers, and doctors can find information on Leigh syndrome, including its symptoms, diagnosis, treatment options, and others.

Figure 2.  Global Leigh Syndrome Treatment Market Share (%), By Disease Type, 2024

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Top Companies in the Leigh Syndrome Treatment Market

• Abliva AB
• PTC Therapeutics
• VAKS Pharma
• MITOCH
• Medley Pharmaceuticals Ltd.
• Khondrion BV
• OMEICOS THERAPEUTICS GMBH.
• Edison Pharmaceuticals, Inc.
• Dainippon Sumitomo Pharma Co. Ltd.
• Taysha GTx
• PicnicHealth (AllStripes)
• Takeda Pharmaceutical Company
• Biogen
• Ionis Pharmaceuticals, Inc.
• Sarepta Therapeutics, Inc.
• MECOSON LABS PRIVATE LIMITED

Definition: Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a rare hereditary mitochondrial disorder that affects the central nervous system. It is caused by defects in the oxidative phosphorylation system within cells. There are several types of Leigh syndrome based on the genetic mutation involved. The most common symptoms include lack of muscle control, abnormal eye and muscle coordination, breathing problems, and developmental delays. In severe cases, it can be fatal.