Pyruvate Kinase Deficiency Market Summary

• Pyruvate kinase deficiency, one of the most common enzymatic defects of the erythrocyte, manifests clinically as a hemolytic anemia that can range from a mildly compensated anemia to severe anemia of childhood. It is caused by mutations in the PKLR gene.
• Most affected individuals do not require treatment, although in the most severe cases, death may occur in utero as a result of severe anemia. Periodic blood transfusions or splenectomy may be required, but most of the symptomatology is limited to early life and to times of physiologic stress or infection.
• With vitamin supplements and transfusions (depending on patient growth and symptoms rather than on set Hb criteria), the therapy is primarily supportive.
• Mitapivat (PYRUKYND) was approved to treat hemolytic anemia in adults with PKD. It is the first and only approved therapy for this rare, debilitating, lifelong hemolytic anemia.
• More research is necessary to determine the long-term safety and effectiveness of mitapivat for individuals with PKD. The hemoglobin response may be more likely in patients with certain PKLR genotypes. Gene therapy is being studied as an approach to therapy for individuals with pyruvate kinase deficiency.
• The primary diagnostic step is still clinical suspicion and the subsequent referral of patients to tertiary facilities, even with the availability of biochemical testing for enzyme activity and the detection of several underlying genetic diseases.
• The emerging treatment landscape for Pyruvate Kinase Deficiency is highlighted by the Phase II asset RP-L301, developed by Rocket Pharmaceuticals.
• There are still several obstacles in the way of managing PKD, especially when it comes to the clinical suspicion threshold, the availability and sensitivity of diagnostic testing, the handling of complications, and the selection of medication type and timing.

DelveInsight’s " Pyruvate Kinase Deficiency (PKD) – Market Insight, Epidemiology, and Market Forecast – 2034" report delivers an in-depth understanding of PKD, historical and forecasted epidemiology as well as the PKD market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The PKD market report provides current treatment practices, emerging drugs, PKD share of individual therapies, and current and forecasted PKD market size from 2020 to 2034, segmented by seven major markets. The report also covers current PKD treatment practices/algorithms and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Pyruvate Kinase Deficiency (PKD) Understanding and Treatment Algorithm

Pyruvate Kinase Deficiency (PKD) Overview

Pyruvate kinase deficiency (PKD) is a rare, inherited red blood cell disorder caused by mutations in the PKLR gene, leading to reduced activity of the pyruvate kinase enzyme, which is essential for energy production in red blood cells. As a result, red blood cells break down prematurely a process known as chronic hemolysis leading to symptoms such as fatigue, jaundice, pallor, shortness of breath, and gallstones. In more severe cases, patients may experience enlarged spleen (splenomegaly), iron overload, and require regular blood transfusions. The severity of PKD varies widely, from mild anemia to life-threatening complications, and it is typically diagnosed through a combination of clinical symptoms, reduced PK enzyme activity, and confirmation of PKLR mutations via genetic testing. 

Pyruvate Kinase Deficiency (PKD) Diagnosis

The diagnosis of Pyruvate Kinase Deficiency involves a multi-step process that combines clinical, biochemical, and genetic assessments. Clinically, it is suspected in individuals with signs of chronic nonspherocytic hemolytic anemia, such as fatigue, jaundice, pallor, and splenomegaly. Laboratory evaluation typically reveals evidence of hemolysis (elevated bilirubin, reticulocytosis, low haptoglobin) alongside normal red blood cell morphology. A key diagnostic step is measuring pyruvate kinase enzyme activity, which is usually reduced in affected individuals. However, because enzyme levels can be influenced by recent transfusions or high reticulocyte counts, the diagnosis should be confirmed with molecular genetic testing to identify pathogenic mutations in the PKLR gene.

Further details related to diagnosis will be provided in the report…

Pyruvate Kinase Deficiency (PKD) Treatment

Treatment of Pyruvate Kinase Deficiency is tailored to the severity of the disease and aims to manage symptoms and prevent complications. Supportive care includes folic acid supplementation, red blood cell transfusions for severe anemia, and iron chelation therapy in cases of iron overload. Splenectomy may be considered in patients with significant splenomegaly or transfusion dependence, as it can reduce hemolysis and improve hemoglobin levels. A major advancement in PKD treatment is the approval of mitapivat, an oral allosteric activator of pyruvate kinase, which has shown to improve hemoglobin levels and reduce transfusion needs in eligible adults. For select patients with severe disease, curative options like hematopoietic stem cell transplantation or investigational gene therapy (e.g., RP-L301) may be considered.

Further details related to treatment will be provided in the report…

Pyruvate Kinase Deficiency (PKD) Epidemiology

The PKD epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the total diagnosed prevalent cases of pyruvate kinase deficiency, age-specific diagnosed prevalent cases of pyruvate kinase deficiency, mutation-specific cases of pyruvate kinase deficiency and total treated cases of pyruvate kinase deficiency, in the 7MM market covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

• Gaps remain in understanding of the epidemiology of pyruvate kinase deficiency because many cases are believed to go unreported.
• PKD is inherited as an autosomal recessive disease and has an estimated prevalence of 3:1,000,000 to 1:20,000.
• More than 600 cases of PK deficiency have been reported, mainly from Europe, the USA and Japan, but the disease occurs worldwide, and it is likely that many cases go unreported. T
• The frequency of the disorder is unknown, although one estimate suggests that approximately 1 in 20,000 Caucasian people develop the disorder. In clinical practice, the frequency is closer to 1 in 1,000,000 people. PKD has been identified most in the US and Europe.
• In Germany and the USA, it has been estimated that about 1% of the population are heterozygous for PK deficiency.
• Currently, about 25% of patients diagnosed with PK deficiency appear to have a previously unrecorded mutation. Approximately 70% of the mutations associated with PK deficiency are missense mutations.

Pyruvate Kinase Deficiency (PKD) Drug Chapters

The drug chapter segment of the PKD report encloses a detailed analysis of PKD marketed and emerging pipeline drugs. It also deep dives into PKD’s pivotal clinical trial details, recent and expected market approvals, patent details, the latest news, and recent deals and collaborations.  Currently, there is only one FDA-approved drugs for treating PKD. The drug chapter also helps understand the PKD clinical trial details, expressive pharmacological action, agreements and collaborations, approval, and patent details, and the latest news and press releases.

Approved Therapies

Mitapivat (PYRUKYND): Agios Pharmaceuticals

The first FDA-approved pyruvate kinase activator, is indicated for treating hemolytic anemia in adults with pyruvate kinase (PK) deficiency. Approved in February 2022, mitapivat represents a significant milestone for PKD patients, who often endure debilitating symptoms and challenges throughout their lives. Its approval was based on positive results from the Phase III ACTIVATE and ACTIVATE-T studies, offering a targeted treatment option for this lifelong condition. 

• In May 2025, Agios Pharmaceuticals announced new data on its pyruvate kinase activators, mitapivat and tebapivat, presented in both oral and poster sessions at the 30th European Hematology Association (EHA) Congress.

• In February 2025, Agios Pharmaceuticals announced that the Phase III ACTIVATE-Kids study evaluating mitapivat in children aged 1 to under 18 years with pyruvate kinase (PK) deficiency who are not regularly transfused has met its primary endpoint, demonstrating a hemoglobin response.

To be continued in the report….

Emerging Therapies

RP-L301: Rocket Pharmaceuticals

RP-L301 is being developed for Pyruvate Kinase Deficiency, a rare, genetic blood disorder characterized by excessive rupture of red blood cells, resulting in frequent, chronic anemia that may be severe or life-threatening for some patients.

RP-L301 is an investigational gene therapy that contains autologous (patient-derived) hematopoietic stem cells (HSCs) that have been genetically modified with a lentiviral vector to contain a functional copy of the PKLR gene for the treatment of PKD.

• In May 2024, Rocket Pharmaceuticals shared updated long-term data from its lentiviral vector hematology portfolio at the 27th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT). The updates highlight the sustained safety and efficacy of the Phase I study of RP-L301 for pyruvate kinase deficiency. 
• In May 2023, the US Food and Drug Administration (FDA) granted Regenerative Medicine Advanced Therapy (RMAT) designation to RP-L301.

To be continued in the report….

Pyruvate Kinase Deficiency (PKD) Market Outlook

Pyruvate kinase deficiency (PKD) treatment differs from one person to another, and an entire team of specialists is required to treat the problem. The clinical presentation of PKD is variable and ranges from in utero complications to incidentally note indirect hyperbilirubinemia or reticulocytosis associated with fully compensated hemolysis without anemia to symptomatic anemia leading to regular blood transfusions. A blood transfusion may be necessary for the developing fetus (intrauterine transfusion) if fetal hydrops develops or there are signs of poor growth related to anemia during pregnancy. Doctors often use phototherapy, a procedure in which intense light is shone on bare skin to speed up the breakdown of bilirubin, which causes jaundice when present in excess.

Iron overload in pyruvate kinase deficiency (PKD) arises from repeated red cell transfusions or increased dietary iron absorption. Chelation agents help excrete excess iron, while phlebotomy may be less tolerated due to anemia. Splenectomy can reduce anemia symptoms and transfusion needs but carries risks like infections and thrombosis. Supportive care includes gallbladder monitoring, folic acid supplementation for red cell production, and bone health support with vitamin D, calcium, and exercise. Gallbladder removal (cholecystectomy) may accompany splenectomy in symptomatic individuals. Allogeneic hematopoietic stem cell transplantation (HSCT) offers a potential cure, especially for those requiring chronic transfusions.  Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5. Approximately 53% of patients younger than age 5 years require regular transfusions, as do approximately 31% of those age 5-12 years.

Further details will be provided in the report….

Pyruvate Kinase Deficiency (PKD) Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2025–2034. The landscape of PKD treatment has experienced a profound transformation with the uptake of novel medicines. These innovative therapies are redefining standards of care. 

Pyruvate Kinase Deficiency (PKD) Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III, Phase II, and Phase I/II stages. It also analyzes key players involved in developing targeted therapeutics.

Pipeline Development Activities

The report covers detailed information on collaborations, acquisitions and mergers, licensing, and patent details for PKD emerging therapies. 

KOL Views

To keep up with current market trends, we take KOLs and SMEs' opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Some of the leaders like MD, Professors, Directors, PhD, and others. Their opinion helps to understand and validate current and emerging therapies and treatment patterns or PKD market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

DelveInsight’s analysts connected with 10+ KOLs to gather insights; however, interviews were conducted with 5+ KOLs in the 7MM. Centers such as the Massachusetts General Hospital, Virginia Commonwealth University etc. were contacted. Their opinion helps understand and validate PKD epidemiology and market trends.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT analysis and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of gaps in disease diagnosis, patient awareness, physician acceptability, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. 

Conjoint Analysis analyzes multiple approved and emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

In efficacy, the trial’s primary and secondary outcome measures are evaluated; for instance, in event-free survival, one of the most important primary outcome measures is event-free survival and overall survival. 

Further, the therapies’ safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Market Access and Reimbursement Key Developments in 2025

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc

Further detailed analysis will be provided in the report….

Scope of the Report

• The report covers a descriptive overview of pyruvate kinase deficiency, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight has been provided into pyruvate kinase deficiency epidemiology and treatment.
• Additionally, an all-inclusive account of both the current and emerging therapies for pyruvate kinase deficiency is provided, along with the assessment of new therapies, which will have an impact on the current treatment landscape.
• A detailed review of the pyruvate kinase deficiency market; historical and forecast is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies, by understanding trends shaping and driving the 7MM pyruvate kinase deficiency market. 

Pyruvate Kinase Deficiency (PKD) Report Insights

• Patient Population
• Therapeutic Approaches
• Pyruvate Kinase Deficiency Pipeline Analysis
• Pyruvate Kinase Deficiency Market Size and Trends
• Market Opportunities
• Impact of Upcoming Therapies

Pyruvate Kinase Deficiency (PKD) Report Key Strengths

• Ten Years Forecast
• 7MM Coverage 
• Pyruvate Kinase Deficiency Epidemiology Segmentation
• Key Cross Competition 
• Drugs Uptake

Pyruvate Kinase Deficiency (PKD) Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs

• What was the pyruvate kinase deficiency market share (%) distribution in 2024 and what it would look like in 2034?
• What would be the pyruvate kinase deficiency total market size as well as market size by therapies across the 7MM during the study period (2020–2034)?
• What are the key findings about the market across the 7MM and which country will have the largest pyruvate kinase deficiency market size during the study period (2020–2034)?
• What would be the pyruvate kinase deficiency market growth till 2034?
• What are the disease risks, burdens, and unmet needs of pyruvate kinase deficiency?
• What is the historical pyruvate kinase deficiency patient pool in the United States, EU4 (Germany, France, Italy, and Spain), and the UK, and Japan?
• What will be the growth opportunities across the 7MM concerning the patient population of pyruvate kinase deficiency?
• At what CAGR the population is expected to grow across the 7MM during the study period (2020–2034)?
• How many emerging therapies are in the mid-stage and late stage of development for the treatment of pyruvate kinase deficiency?
• What are the key collaborations (industry–industry, industry-academia), mergers and acquisitions, and licensing activities related to pyruvate kinase deficiency therapies? 

Reasons to buy

• The report will help in developing business strategies by understanding trends shaping and driving the pyruvate kinase deficiency market.
• To understand the future market competition in the pyruvate kinase deficiency market and insightful review of the SWOT analysis of pyruvate kinase deficiency.
• Organize sales and marketing efforts by identifying the best opportunities for pyruvate kinase deficiency in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Organize sales and marketing efforts by identifying the best opportunities for the pyruvate kinase deficiency market.
• To understand the future market competition in the pyruvate kinase deficiency.