Phosphoglycerate Kinase Deficiency Market

Market Overview:

The 7 major phosphoglycerate kinase deficiency markets reached a value of USD 462.7 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 949.3 Million by 2035, exhibiting a growth rate (CAGR) of 6.78% during 2025-2035.

The phosphoglycerate kinase deficiency market has been comprehensively analyzed in IMARC's new report titled "Phosphoglycerate Kinase Deficiency Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Phosphoglycerate kinase deficiency is an uncommon X-linked metabolic disorder due to mutations in the PGK1 gene, with disrupted glycolysis and decreased production of ATP. Red blood cells, muscle, and the central nervous system are the main tissues affected in this enzyme deficiency, and it results in non-spherocytic hemolytic anemia, progressive myopathy, and neurological dysfunction. The clinical course is highly unpredictable, ranging from asymptomatic people to patients who are tired, jaundiced, intolerant to exercise, weak in muscle, and who experience severe hemolytic crisis. In full-blown situations, there is a neurological manifestation in the pattern of intellectual handicap, seizures, and delayed development, having serious implications for the quality of the patient's life. Clinical examination, enzymatic assay of red cell or muscle PGK activity, and genetic analysis for diagnosis of PGK1 mutations make up diagnosis. PGK deficiency is generally late or misdiagnosed in its rare form and co-existing with other diseases of metabolic or hematologic types. Diagnosis now becomes ever-increasingly early with new development in the form of molecular diagnostics through the help of next-generation sequencing (NGS) and whole-exome sequencing (WES). Increasing awareness and expanding diagnostic scope will lead to an increasing number of cases being diagnosed, creating interest in novel therapeutic options.

The need for phosphoglycerate kinase (PGK) deficiency is thus fueled mainly by increasing awareness of rare metabolic diseases, technological developments in diagnostic technology, and research into possible therapeutic options. As genetic screening and molecular diagnostics gain wider application, early diagnosis of PGK deficiency is becoming increasingly successful, allowing for timely medical intervention. Current treatment is mostly supportive, aimed at reducing symptoms rather than curing the underlying enzyme deficiency. Blood transfusions and iron chelation therapy constitute the usual management of hemolytic anemia, whereas physical therapy and adaptation of physical activities relieve weakness and fatigue. No disease-modifying drugs have attained regulatory approval; however, investigational studies regarding enzyme replacement therapy (ERT), gene therapy, and small-molecule glycolytic pathway-targeting drugs are increasing. Emergence of novel therapeutic modalities, such as mRNA-based therapies and targeted metabolic interventions, promises huge growth in the market. On the other hand, government incentives for orphan drug development, coupled with growing partnerships between biotech companies and research centers, are driving development. With the expanding horizons of precision medicine, patients' treatment strategies tailored according to their genetic fingerprint may transform PGK deficiency management in the years to come.

IMARC Group's new report provides an exhaustive analysis of the phosphoglycerate kinase deficiency market in the United States, EU4 (Germany, Spain, Italy, and France), 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. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, 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 phosphoglycerate kinase deficiency market in any manner.

Key Highlights:

• Approximately 30 affected families have been reported globally, indicating an extremely low prevalence.
• Although certain mortality statistics are limited, symptom severity differs. Some suffer from chronic hemolytic anemia and neurological disabilities, affecting life expectancy. Others can develop milder varieties with a normal life expectancy.
• Because of its X-linked recessive mode of inheritance, PGK deficiency mainly occurs in males. Being heterogametic, females have two X chromosomes and are usually carriers and asymptomatic but sometimes present with mild symptoms like anemia.
• No specific regions have been identified with a higher incidence of PGK deficiency. The limited number of documented cases suggests a sporadic distribution across various populations.
• Phosphoglycerate kinase deficiency occurs in two main forms: the hemolytic form, with chronic hemolytic anemia and symptoms of pallor, jaundice, fatigue, and dyspnea, and the myopathic form with progressive weakness, pain, cramping, and possible myoglobinuria, which can result in renal failure if left untreated.

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

Competitive Landscape:

This report also provides a detailed analysis of the current phosphoglycerate kinase 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

Key Questions Answered in this Report:

Market Insights

• How has the phosphoglycerate kinase 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 phosphoglycerate kinase deficiency market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the phosphoglycerate kinase 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 phosphoglycerate kinase deficiency across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of phosphoglycerate kinase deficiency by age across the seven major markets?
• What is the number of prevalent cases (2019-2035​) of phosphoglycerate kinase deficiency by gender across the seven major markets?
• How many patients are diagnosed (2019-2035​) with phosphoglycerate kinase deficiency across the seven major markets?
• What is the size of the phosphoglycerate kinase 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 phosphoglycerate kinase deficiency?
• What will be the growth rate of patients across the seven major markets?

Phosphoglycerate Kinase 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 phosphoglycerate kinase 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 phosphoglycerate kinase deficiency market?
• What are the key regulatory events related to the phosphoglycerate kinase deficiency market?
• What is the structure of clinical trial landscape by status related to the phosphoglycerate kinase deficiency market?
• What is the structure of clinical trial landscape by phase related to the phosphoglycerate kinase deficiency market?
• What is the structure of clinical trial landscape by route of administration related to the phosphoglycerate kinase deficiency market?