Pyruvate Kinase (PK) Deficiency Market by Treatment (Blood Transfusion, Bone Marrow Transplantation, Allogeneic Hematopoietic Stem Cell Transplantation (HSCT), Enzyme Replacement Therapy, and Others), by Diagnosis (Complete Blood Count (CBC), Genetic Testing, Haptoglobin Blood Test, and Others) by End-user (Hospitals, Diagnostic Laboratories, Research Institutes, and Specialty Clinics): Global Opportunity Analysis and Industry Forecast, 2022-2031

The Pyruvate Kinase (PK) Deficiency market was valued at $XX million in 2022. It is projected to grow at a CAGR of 5.2% from 2023 to 2031 and reach more than XX million by the end of 2031.   

Analysts’ Viewpoint

Pyruvate Kinase (PK) Deficiency is a rare genetic disorder that affects red blood cell metabolism and can cause hemolytic anemia, jaundice, fatigue, and other symptoms. Although it is a rare disease, the Pyruvate Kinase (PK) Deficiency market is expected to grow in the coming years due to increased awareness, diagnosis, and treatment options.

One of the key drivers of the Pyruvate Kinase (PK) Deficiency market is the growing availability of novel therapies, including enzyme replacement therapies, gene therapies, and other emerging treatment options. In addition, ongoing clinical trials and research studies are expected to uncover new insights into the disease pathogenesis and open up new avenues for treatment development. Another factor driving the growth of the Pyruvate Kinase (PK) Deficiency market is the increasing use of genetic testing and other diagnostic tools, which can help to identify patients with the disease and improve treatment outcomes. As more patients are diagnosed and treated for Pyruvate Kinase (PK) Deficiency, the demand for effective and affordable treatments is likely to increase, driving further growth in the market.

However, there are also challenges facing the Pyruvate Kinase (PK) Deficiency market, including the high cost of treatment, the limited number of patients, and the need for better patient education and support. To overcome these challenges, stakeholders in the Pyruvate Kinase (PK) Deficiency market must work together to develop innovative treatment solutions, improve patient access to care, and raise awareness of the disease among healthcare providers and the general public.

Pyruvate Kinase (PK) Deficiency Market Overview 

Pyruvate Kinase (PK) Deficiency is a rare genetic disorder, and its prevalence varies among different populations. It is estimated that the incidence of Pyruvate Kinase (PK) Deficiency is between 1 in 20,000 to 1 in 200,000 births worldwide. The disease is more common in certain populations, such as individuals of Northern European descent, where the incidence may be as high as 1 in 5,000 individuals. PK deficiency affects both males and females equally and can present at any age, from infancy to adulthood. The severity of the disease can also vary widely, ranging from mild anemia to life-threatening hemolytic crises. Due to its rarity and variable presentation, diagnosing Pyruvate Kinase (PK) Deficiency can be challenging. However, advances in genetic testing and diagnostic technologies have improved the ability to identify individuals with the disease, leading to earlier diagnosis and more effective treatment options.

As awareness and understanding of Pyruvate Kinase (PK) Deficiency increase, it is expected that the incidence of the disease may also rise due to improved diagnosis and reporting. Ongoing research is needed to further understand the disease and develop new treatment options to improve patient outcomes.

Advancements in diagnostic technologies have significantly improved the ability to diagnose and treat Pyruvate Kinase (PK) Deficiency. In the past, the diagnosis of PK deficiency was challenging, as the symptoms of the disease could mimic those of other types of anemia. However, the development of genetic testing and other diagnostic technologies has enabled doctors to identify individuals with PK deficiency earlier and with greater accuracy.

Genetic testing, in particular, has become an increasingly valuable tool in diagnosing PK deficiency. With advances in genetic sequencing, it is now possible to screen for specific mutations in the PKLR gene, which is responsible for the production of the pyruvate kinase enzyme. This can help doctors identify carriers of the disease, as well as individuals with PK deficiency itself.

In addition to genetic testing, other diagnostic technologies, such as haptoglobin blood tests, have also been developed to aid in the diagnosis of PK deficiency. These tests measure the level of haptoglobin in the blood, which can be used to detect hemolysis, a key feature of PK deficiency.

As PK deficiency can be a severe and lifelong ailment, there is a growing need for reliable and efficient treatments to address this disease. Patients with PK deficiency often face a range of symptoms, including anemia, fatigue, and jaundice, that can significantly impact their quality of life. Additionally, if left untreated, PK deficiency can lead to more severe complications such as liver damage or stroke. Hence, there is a pressing need for safe and effective therapies to manage the disease, alleviate symptoms, and prevent further complications. The rising demand for such treatments underscores the importance of continued research and development in this area.

New product launches to flourish in the market

In 2020, Agios received FDA approval for their therapy, Mitapivat, for the treatment of PK deficiency in adults. Also in 2020, Rubius initiated a Phase 1/2 clinical trial of their red cell therapeutic candidate, RTX-134, for the treatment of PK deficiency. In 2019, Sangamo announced the initiation of a Phase 1/2 clinical trial of their gene therapy candidate, SB-525, for the treatment of PK deficiency. Moreover, in 2019, Orchard announced positive clinical data from a Phase 1/2 clinical trial of their gene therapy candidate, OTL-203, for the treatment of PK deficiency.

Segment Overview:

By Treatment: The Pyruvate Kinase (PK) Deficiency market is divided into Blood Transfusion, , Bone Marrow Transplantation, Allogeneic Hematopoietic Stem Cell Transplantation (HSCT), Enzyme Replacement Therapy and Others. Blood transfusion is currently the most common treatment for PK deficiency, but it is associated with several complications, including iron overload and alloimmunization. Bone marrow transplantation and HSCT are curative but require a compatible donor, and there are risks of complications such as graft versus host disease. Enzyme replacement therapy aims to address the underlying deficiency, but the efficacy of this treatment is still under investigation. Other treatment modalities include pharmacological interventions, gene therapy, and supportive care.

By Diagnosis: The Pyruvate Kinase (PK) Deficiency market is divided into Complete Blood Count (CBC), Genetic Testing, Haptoglobin Blood Test and Others. CBC is a commonly used diagnostic test to assess the severity of anemia in PK deficiency patients. Genetic testing helps in identifying the genetic mutations responsible for PK deficiency, aiding in early diagnosis and genetic counseling. Haptoglobin blood test is a non-specific test to assess the level of hemolysis in PK deficiency patients. Other diagnostic modalities include bone marrow biopsy, enzyme activity assays, and flow cytometry. Early diagnosis and proper management of PK deficiency are crucial to prevent severe complications, emphasizing the need for accurate and reliable diagnostic tools.

By End-user: The Pyruvate Kinase (PK) Deficiency market is segmented by Hospitals, Diagnostic Laboratories, Research Institutes, and Specialty Clinics. Hospitals are the primary healthcare facilities providing treatment for PK deficiency, offering a range of treatment options, including blood transfusion and bone marrow transplantation. Diagnostic laboratories play a critical role in diagnosing PK deficiency, providing services such as genetic testing and CBC. Research institutes are involved in developing new therapies for PK deficiency, conducting clinical trials, and exploring the underlying mechanisms of the disease. Specialty clinics are dedicated to providing specialized care for PK deficiency patients, offering comprehensive disease management and support services.

By Region:

The North American Pyruvate Kinase (PK) Deficiency market is a rapidly growing segment of the rare disease market. The prevalence of PK deficiency in North America is estimated to be between 3,000 to 7,000 cases. The market is primarily driven by the rising demand for effective therapies, increasing awareness about the disease, and favorable government initiatives promoting rare disease research. The market is also witnessing significant investments from biopharmaceutical companies developing innovative therapies for PK deficiency. The US FDA has granted several orphan drug designations for PK deficiency treatments, providing incentives for companies to invest in the development of new therapies. The North American PK deficiency market is expected to continue to grow in the coming years.

The Asia-Pacific Pyruvate Kinase (PK) Deficiency market is a growing segment of the rare disease market, driven by the rising prevalence of PK deficiency in the region. The prevalence of PK deficiency in Asia is estimated to be around 20% of the total PK deficiency cases globally. The market is primarily driven by increasing awareness about rare diseases, improved access to diagnosis and treatment, and government initiatives promoting rare disease research. The market is also witnessing significant investments from biopharmaceutical companies developing innovative therapies for PK deficiency. The Asia-Pacific PK deficiency market is expected to grow in the coming years, as more patients are diagnosed and receive proper treatment.

Competitive analysis and profiles of the major players in the Pyruvate Kinase (PK) Deficiency market, such as Agios Pharmaceuticals, Alnylam Pharmaceuticals, Amgen, BioMarin Pharmaceutical, bluebird bio, CRISPR Therapeutics, Editas Medicine, Genentech, Global Blood Therapeutics, Idorsia Pharmaceuticals, Intellia Therapeutics, Ionis Pharmaceuticals, Novartis, Orchard Therapeutics and Pfizer. Major players have adopted product launch and acquisition as key developmental strategies to improve the product portfolio of the Pyruvate Kinase (PK) Deficiency market.    

Market Scope and Structure Analysis

Key Segments Covered

Treatment

• Blood Transfusion,
• Bone Marrow Transplantation
• Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)
• Enzyme Replacement Therapy
• Others

Diagnosis

• Complete Blood Count (CBC)
• Genetic Testing
• Haptoglobin Blood Test
• Others

End-user

• Hospitals
• Diagnostic Laboratories
• Research Institutes
• Specialty Clinics

Region

• North America
  • U.S.
  • Canada
  • Mexico
• Europe
  • Germany
  • UK
  • France
  • Italy
  • Spain
  • Rest of Europe
• Asia-Pacific
  • China
  • Japan
  • South Korea
  • India
  • Australia
  • Rest of Asia-Pacific
• LAMEA
  • Latin America
  • Middle East
  • Africa