Ornithine Transcarbamylase Deficiency Market

Market Overview:

The ornithine transcarbamylase deficiency market reached a value of USD 689.1 Million across the top 7 markets (US, EU4, UK, and Japan) in 2024. Looking forward, IMARC Group expects the top 7 major markets to reach USD 1,044.7 Million by2035, exhibiting a growth rate (CAGR) of 3.86% during 2025-2035.

The ornithine transcarbamylase deficiency market has been comprehensively analyzed in IMARC's new report titled "Ornithine Transcarbamylase Deficiency Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Ornithine transcarbamylase deficiency is a rare X-linked hereditary condition characterized by the total or partial absence of the enzyme ornithine transcarbamylase (OTC). The deficiency of the OTC enzyme causes an excessive buildup of nitrogen in the blood in the form of ammonia (hyperammonemia). Excess ammonia, a neurotoxin, enters the central nervous system via the bloodstream, causing the symptoms associated with OTC deficiency. The condition can cause symptoms ranging from severe neonatal onset, such as lethargy, vomiting, and convulsions, to milder, later-onset presentations with intermittent encephalopathy and psychiatric problems. People suffering from ornithine transcarbamylase deficiency might experience irritability, heavy or rapid breathing, disorientation, somnolence, recurrent vomiting, poor growth, tachypnea, delayed growth, aversion to protein foods, etc. Diagnosing this ailment commonly involves a comprehensive clinical evaluation, as well as blood and urine tests. The healthcare provider may also utilize plasma amino acid analysis that can reveal low levels of citrulline and elevated levels of glutamine, along with other amino acid abnormalities. Furthermore, genetic testing might be performed to identify mutations or variants in the OTC gene, which is located on the X chromosome.

The escalating prevalence of mutations in the OTC gene that can lead to a deficiency or absence of the OTC enzyme, essential for processing ammonia, is primarily driving the ornithine transcarbamylase deficiency market. In addition to this, the inflating utilization of effective medications, such as sodium benzoate, sodium phenylacetate, sodium phenylbutyrate, etc., to help the body eliminate excess nitrogen by diverting it into alternative pathways for excretion, is also creating a positive outlook for the market. Moreover, the widespread adoption of hemodialysis on account of its numerous advantages, such as the reduced risk of multi-organ failure, maintained metabolic stability, and enhanced ammonia clearance is further bolstering the market growth. Apart from this, the rising usage of liver transplantation, since it corrects the metabolic defect and eliminates the risk of hyperammonemia in patients, is acting as another significant growth-inducing factor. Additionally, the emerging popularity of gene therapy, which works by delivering a functional copy of the OTC gene, potentially offering a curative solution through approaches like AAV gene addition or mRNA therapy, is expected to drive the ornithine transcarbamylase deficiency market during the forecast period.

IMARC Group's new report provides an exhaustive analysis of the ornithine transcarbamylase deficiency market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. According to the report the United States has the largest patient pool for ornithine transcarbamylase deficiency and also represents the largest market for its treatment. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario and unmet medical needs, etc. have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the ornithine transcarbamylase deficiency market in any manner.

Recent Developments:

In March 2025, iECURE stated at the 2025 ACMG Annual Clinical Genetics Meeting that findings from the ongoing OTC-HOPE Phase 1/2 research of ECUR-506 suggested partial restoration of functional ornithine transcarbamylase enzyme activity in the first patient dosed.

In July 2024, Arcturus Therapeutics Holdings Inc. announced that the double-blind ARCT-810, an investigational mRNA therapeutic to treat ornithine transcarbamylase deficiency, Phase 2 study in the EU and UK had completed enrollment of eight (8) subjects, including adolescents and adults, at a dose of 0.3 mg/kg. Participants in this group are randomized 3:1 and administered 6 doses of ARCT-810 or placebo every 14 days.

Drugs:

BUPHENYL (sodium phenylbutyrate) is an agent indicated for adjunctive therapy for the management of chronic urea cycle disorders. Sodium phenylbutyrate is a prodrug that quickly converts to phenylacetate. Phenylacetate is conjugated with phenylacetyl-CoA, which then combines with glutamine by acetylation to form phenylacetylglutamine. The kidneys then excrete phenylacetylglutamine, offering an alternative method for waste nitrogen excretion to the urea cycle.

ARCT-810, developed by Arcturus Therapeutics, is an mRNA-based therapy designed to address ornithine transcarbamylase deficiency. It utilizes lipid nanoparticle (LNP) technology to deliver synthetic OTC mRNA directly to liver cells. Once inside hepatocytes, the mRNA is translated into functional OTC enzyme, restoring the missing or deficient enzymatic activity essential for ammonia detoxification via the urea cycle. By enhancing endogenous OTC production, ARCT-810 helps prevent hyperammonemia, reducing neurological complications and metabolic crises.

ECUR-506 is a gene-editing therapy designed to treat ornithine transcarbamylase deficiency by permanently restoring OTC enzyme function in hepatocytes. It employs ARCUS, a precision gene-editing technology, to insert a functional copy of the OTC gene into the liver genome at a safe harbor site. This targeted insertion allows for stable and long-term OTC enzyme expression, enabling proper urea cycle function and preventing hyperammonemia.

DTX301, developed by Dimension Therapeutics, is an AAV8-based gene therapy for ornithine transcarbamylase deficiency. It delivers a functional OTC gene to liver cells, enabling sustained OTC enzyme production. This restores urea cycle function, reducing ammonia buildup and preventing hyperammonemia-related toxicity, offering a potential long-term treatment for OTC deficiency.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the ornithine transcarbamylase deficiency market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the ornithine transcarbamylase deficiency market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current ornithine transcarbamylase deficiency marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:

Market Insights

• How has the ornithine transcarbamylase deficiency market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the ornithine transcarbamylase deficiency market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the ornithine transcarbamylase deficiency market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (2019-2035) of ornithine transcarbamylase deficiency across the seven major markets?
• What is the number of prevalent cases (2019-2035) of ornithine transcarbamylase deficiency by age across the seven major markets?
• What is the number of prevalent cases (2019-2035 of ornithine transcarbamylase deficiency by gender across the seven major markets?
• How many patients are diagnosed (2019-2035) with ornithine transcarbamylase deficiency across the seven major markets?
• What is the size of the ornithine transcarbamylase deficiency patient pool (2019-2024) across the seven major markets?
• What would be the forecasted patient pool (2025-2035) across the seven major markets?
• What are the key factors driving the epidemiological trend of ornithine transcarbamylase deficiency?
• What will be the growth rate of patients across the seven major markets?

Ornithine Transcarbamylase Deficiency: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for ornithine transcarbamylase deficiency drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the ornithine transcarbamylase deficiency market?
• What are the key regulatory events related to the ornithine transcarbamylase deficiency market?
• What is the structure of clinical trial landscape by status related to the ornithine transcarbamylase deficiency market?
• What is the structure of clinical trial landscape by phase related to the ornithine transcarbamylase deficiency market?
• What is the structure of clinical trial landscape by route of administration related to the ornithine transcarbamylase deficiency market?