Mitochondrial Myopathy Diagnosis & Treatment Market Research Report Information by Type (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes, Progressive External Ophthalmoplegia, Myoclonic Epilepsy with Ragged Red Fibers, Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Kearns–Sayre Syndrome (KSS), Mitochondrial DNA Depletion Syndrome, Pearson Syndrome, Leigh Syndrome, Neuropathy, Ataxia and others), Diagnostic Test (Genetic Tests, Muscle Biopsy and Biochemical Test), Deployment Models (On-Premise and Clou

Global Mitochondrial Myopathy Diagnosis & Treatment Market  

Mitochondrial Myopathy Diagnosis & Treatment Market Size was valued at USD 24.19 Billion in 2023. The Global Mitochondrial Myopathy Diagnosis & Treatment industry is projected to grow from USD 26.13 Billion in 2024 to USD 47.30 Billion by 2032, exhibiting a compound annual growth rate (CAGR) of 6.81% during the forecast period (2024 - 2032).

The mitochondrial myopathy treatment provides relief from mitochondrial myopathies such as Barth syndrome, chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), etc. There exists no cure for the mitochondrial myopathy, although many drugs are in the pipeline, and few have received fast track approval and orphan drug status. The factors such as rising number of screening services for mitochondrial disorders, a growing number of mitochondrial myopathy cases, increased government funding, and incentives for rare genetic diseases are driving the market for mitochondrial myopathy diagnosis & treatment. However, inadequate treatment options and the absence of curative treatment have constrained the market. The treatment options have been divided into curative and symptomatic management of conditions associated with mitochondrial myopathies such as stroke and cardiac symptoms.

Market Dynamics

Mitochondrial myopathy is a rare mutational disease, and at present, there is no concrete treatment available for the disease. However, there are few diagnostic tests available in the mitochondrial myopathies treatment market, which are the only saving grace for the mitochondrial myopathy diagnosis & treatment market at present. There are certain factors which drive the growth of the market. These include a rise in the number of mitochondrial myopathy patients, development in the disease screening process and testing services, lucrative incentives for the rare genetic diseases, and government funding and support for the development of the treatment options.

Further, rising number of screening and a growing number of mitochondrial myopathy casesfor example, in the US, new-born screening is performed on every infant regardless of the parent’s health insurance status or paying ability with some states not even charging the nominal fees for the testing. Any other expenses are covered by most private health insurance plans and the Children's Health Insurance Program (CHIP) and Medicaid both cover the cost. Thus, rising screening both due to government regulations and increasing insurance penetration is estimated to drive the future growth of mitochondrial myopathies treatment market.

On the other hand, poor treatment options and unavailability of the curative treatment for the mitochondrial myopathy, lack of awareness, and a high number of the underdiagnosed population are some of the factors which hinder the growth of the mitochondrial myopathy diagnosis & treatment market.

Barth syndrome, chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, etc. are all mitochondrial myopathies that benefit from the medication available for this condition. While there are several potential treatments for mitochondrial myopathy, none have yet obtained fast track approval or been designated as an orphan medication. The market for mitochondrial myopathy diagnosis and treatment is being fueled by reasons such as the increasing availability of screening services for mitochondrial disorders, the rising prevalence of mitochondrial myopathy, greater government funding, and incentives for uncommon genetic illnesses.

Growth in the market is anticipated to be spurred by factors such as the rising incidence of mitochondrial myopathies, the availability of healthcare insurance, the convenience of online shopping, the availability of R&D funding for pharmaceutical companies, and the aging population. Niacin, a nutritional supplement, has just finished its Phase 3 clinical study.

Jan 2023: Primera Therapeutics, the first company to be spun out of Mayflower BioVentures' CGT accelerator, announced in January 2023 that it had entered into a partnership with Cellectis to develop gene editing methods for mutations in mitochondrial DNA (mtDNA) as potential in vivo therapies for treating mitochondrial disease. Primera uses a TALE-based gene editing technique designed specifically for the mitochondrial genome to eliminate mutations there. The company's primary mission is the research and development of therapeutics for uncommon mitochondrial disorders for which no effective treatments currently exist. The collaboration between MitoGen and Cellectis will result in the development of an mtDNA engineering toolkit that will be used to further the development of therapeutics for mitochondrial illnesses.

Mitochondrial Myopathy Diagnosis & Treatment Market Segment Insights

June 2023: Leigh syndrome is the most common form of pediatric mitochondrial disease, and in June 2023, the 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 objective of this project was to build a website with trustworthy medical information that is also visually appealing and easy to use, with lots of photographs of happy families and young children. Its mission is to provide a venue where people may connect with one another, share experiences, and feel like they are being treated as whole persons, not just patients.

Jan 2023: Three next-generation sequencing (NGS) target enrichment panels for rare disease and hereditary cancer research and diagnostics will be released in January 2023 by Twist Bioscience Corporation, a company that helps its customers succeed by providing high-quality synthetic DNA using its silicon platform, and Centogene N.V., the essential life science partner for data-driven answers in rare and neurodegenerative diseases. There is less need for extensive sequencing when using target enrichment panels to focus on certain genes for analysis. To advance the study of illnesses and aid healthcare practitioners in providing precision medicine, this enables for more sensitive identification of target genetic sequences and increased confidence that variations will be found.

Mitochondrial Myopathy Diagnosis & Treatment Regional Insights

The mitochondrial myopathy diagnosis & treatment market has been segmented on the basis of regions into the Americas, Europe, Asia-Pacific, and Middle East & Africa. Among these has captured the whole market of mitochondrial myopathy at present as there are no targeted therapies available in the market. There are few molecules under clinical development for the targeted treatment of the mitochondrial myopathy, which is expected to be available in the market after 2021. However, supportive therapy will continue to dominate the global mitochondrial myopathies treatment market until the availability of concrete treatment for the disease.

Americas mitochondrial myopathies treatment market is the largest market for the diagnosis and treatment of mitochondrial myopathy. Advanced healthcare services, state of the art healthcare infrastructure, availability of the better healthcare services and outcomes, development in the genetic testing spectrum, high awareness about the mitochondrial diseases among the population, efforts taken by various organization for spreading the awareness about such rare disease conditions. All these factors culminate to make the American region the largest market in the world. Some of the companies such as GeneDx and ARUP laboratories, among others are involved in the genetic testing of the mitochondrial diseases, including myopathy. Moreover, few companies such as Stealth Biotherapeutics are engaged in the development of the novel drugs for the targeted therapies for the mitochondrial myopathies.

• July 2017 Centogene AG signed a cooperation agreement with University Hospital St. Ivan Rilski in Bulgaria. The collaboration helped the company in expanding its genetic testing portfolio.

• June 2017 Centogene AG raised nearly Euro 25 million in the financial round led by the TVM Capital Life Science in cooperation with DPE Deutsche Private Equity, Careventures, and CIC Capital. The financial boost enabled the company to provide a more extensive genetic testing portfolio to a larger customer base.

Mitochondrial Myopathy Diagnosis & Treatment Market Segmentation

Mitochondrial Myopathy Diagnosis & Treatment Type Outlook

• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes


• Progressive External Ophthalmoplegia


• Myoclonic Epilepsy with Ragged Red Fibers


• Mitochondrial Neurogastrointestinal Encephalopathy Syndrome


• Kearns–Sayre Syndrome


• Mitochondrial DNA Depletion Syndrome


• Pearson Syndrome


• Leigh Syndrome


• Neuropathy, Ataxia, and Retinitis Pigmentosa

Mitochondrial Myopathy Diagnosis & Treatment Diagnostic Test Outlook

• Genetic Tests


• Muscle Biopsy


• Biochemical Test

Mitochondrial Myopathy Diagnosis & Treatment Therapy Outlook

• Supportive Therapy


• Targeted Therapy

Mitochondrial Myopathy Diagnosis & Treatment Market, by Key Players

• AbbVie Inc.


• Centogene AG


• GeneDx


• Ixchel Pharma


• Khondrion BV


• Mitobridge


• NeuroVive Pharmaceutical AB


• Reata Pharmaceuticals Inc.


• Stealth Biotherapeutics

Intended Audience

• Biotechnology companies


• Hospitals


• Research and development (R&D) companies


• Market research and consulting service providers


• Potential investors