Ornithine Transcarbamylase Deficiency (OTC Deficiency) Market Report 2025

The ornithine transcarbamylase deficiency (OTC deficiency) market size has grown strongly in recent years. It will grow from $0.83 billion in 2024 to $0.89 billion in 2025 at a compound annual growth rate (CAGR) of 7.1%. The growth during the historic period can be attributed to increased awareness of rare metabolic disorders, advancements in genetic screening and diagnostics, improvements in neonatal screening programs, the rising prevalence of genetic testing for rare diseases, and enhanced neonatal screening initiatives.

The ornithine transcarbamylase deficiency (OTC deficiency) market size is expected to see strong growth in the next few years. It will grow to $1.16 billion in 2029 at a compound annual growth rate (CAGR) of 6.8%. The growth during the forecast period can be attributed to increasing awareness and diagnosis, the rising prevalence of urea cycle disorders, a growing focus on rare disease treatments, more research and clinical trials, and improved patient access to treatments. Key trends during this period include advancements in genetic therapies and gene editing technologies, the development of enzyme replacement therapies, collaborative research initiatives and partnerships, technological innovations in diagnostic tools, and government funding and incentives for orphan drugs.

The increasing demand for gene therapies is expected to drive the growth of the ornithine transcarbamylase deficiency market. Gene therapy is a medical technique that involves altering a person’s genetic material to treat or prevent diseases. The growing demand for these therapies is linked to the rising prevalence of genetic disorders, many of which have few treatment options, making gene therapy an appealing approach to address the root cause of the condition rather than just alleviating symptoms. Ornithine transcarbamylase deficiency highlights the potential of gene therapy by correcting the genetic mutation that disrupts the urea cycle, offering a targeted solution that restores metabolic function and prevents harmful ammonia buildup. For example, in January 2024, the American Society of Gene & Cell Therapy reported that the number of gene therapies in Phase III increased by 10% in Q4 2023, the first increase since Q3 2022. This growth in gene therapy demand is thus contributing to the expansion of the ornithine transcarbamylase deficiency market.

Companies involved in the ornithine transcarbamylase deficiency market are increasingly focusing on innovative therapies such as mRNA therapeutics to improve treatment outcomes and address the genetic basis of OTC deficiency. mRNA therapeutics use messenger RNA to instruct cells to produce specific proteins that can treat diseases, including genetic disorders, infections, and cancers. For instance, in June 2023, Arcturus Therapeutics Holdings Inc., a U.S.-based biotech firm, received Fast Track Designation from the FDA for its mRNA therapeutic candidate, ARCT-810, for treating ornithine transcarbamylase (OTC) deficiency. This designation aims to accelerate the development and review process, providing benefits such as more frequent interactions with the FDA and priority review. ARCT-810 is designed to help OTC deficiency patients produce a functional OTC enzyme in their liver cells, addressing the underlying cause of the condition and potentially improving their quality of life.

In November 2023, Zevra Therapeutics Inc., a U.S.-based pharmaceutical company, acquired Acer Therapeutics Inc. for $91 million. This acquisition strengthens Zevra Therapeutics' position in the rare disease sector, expanding its portfolio and increasing its revenue potential. Acer Therapeutics specializes in developing therapies for ornithine transcarbamylase deficiency, further enhancing Zevra's focus in this therapeutic area.

Major players in the ornithine transcarbamylase deficiency (otc deficiency) market are Thermo Fisher Scientific, Novartis AG, GlaxoSmithKline plc, Roche Holding AG, Eli Lilly and Company, Amgen Inc., Merck & Co. Inc, Biogen Idec, Bausch Health Companies Inc, Alexion Pharmaceuticals, Sobi, BioMarin Pharmaceutical Inc, Glenmark Pharmaceuticals Ltd., Nutricia, Vertex Pharmaceuticals Incorporated, Ultragenyx Pharmaceutical Inc, Arcturus Therapeutics, Regenxbio, OrphanPacific Inc, Ucyclyd Pharma Inc.

North America was the largest region in the ornithine transcarbamylase deficiency (OTC Deficiency) market in 2024. Asia-pacific is expected to be the fastest-growing region in the forecast period. The regions covered in ornithine transcarbamylase deficiency report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the ornithine transcarbamylase deficiency market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Ornithine transcarbamylase (OTC) deficiency is a rare genetic disorder caused by mutations in the OTC gene, leading to a lack of the ornithine transcarbamylase enzyme, which is crucial for the urea cycle to remove ammonia from the body. This deficiency results in hyperammonemia, which can cause symptoms such as vomiting, lethargy, seizures, and in severe cases, coma, particularly in newborns.

The main product types for treating OTC deficiency include DTX-301, SEL-313, SHP-641, and PRX-OTC. DTX-301 is an investigational AAV8-based gene therapy designed to deliver a functional OTC gene to liver cells for treating OTC deficiency. Treatment options include gene therapy, liver transplant, dietary management, and other therapies. Diagnosis is performed using genetic testing and ammonia level testing. The end users of OTC deficiency treatments include hospitals, specialty clinics, research institutes, and other healthcare providers.

The ornithine transcarbamylase deficiency (OTC deficiency) market research report is one of a series of new reports that provides ornithine transcarbamylase deficiency (OTC deficiency) market statistics, including the ornithine transcarbamylase deficiency (OTC deficiency) industry global market size, regional shares, competitors with the ornithine transcarbamylase deficiency (OTC deficiency) market share, detailed ornithine transcarbamylase deficiency (OTC deficiency) market segments, market trends, and opportunities, and any further data you may need to thrive in the ornithine transcarbamylase deficiency (OTC deficiency) industry. This ornithine transcarbamylase deficiency (OTC deficiency) market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenarios of the industry.

The ornithine transcarbamylase deficiency market consists of revenues earned by entities by providing services such as genetic testing & diagnosis services, dietary management & nutrition services, clinical trials & research programs, medical consultation and genetic counseling. The market value includes the value of related goods sold by the service provider or included within the service offering. The ornithine transcarbamylase deficiency (OTC deficiency) market also includes sales of amino acid and protein supplements, gene therapies, nitrogen scavenging drugs, diagnostic and monitoring tests. Values in this market are ‘factory gate’ values, that is the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD, unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

This product will be delivered within 3-5 business days.