알파 지중해빈혈은 거의 예외 없이 자궁 내에서 치명적이며, 효과적인 치료법에 대한 미충족 수요가 있는 희귀질환임에도 불구하고 지중해빈혈 분야의 관심은 대부분 베타 지중해빈혈 환자를 위한 약물의 연구개발에 집중되어 있습니다. 현재 시장에는 α 지중해빈혈 환자를 위한 FDA 또는 EMA 승인 약물이 없습니다. 현재 치료 옵션이 부족함에도 불구하고 개발중인 약물은 소수에 불과합니다. 이 환자 집단에 대한 치료 옵션이 부족하므로 어떤 치료제가 승인되면 시장 점유율을 크게 차지할 수 있습니다.
치료법으로는 수혈, 철분 킬레이트 요법으로 철분 과다증을 관리하는 철분 킬레이트 요법, 중증 환자에 대한 골수 이식 등이 있습니다. 또한 알파 지중해빈혈(ATM)에 대한 자궁내 조혈모세포 이식이 파이프라인에 있습니다. 이 조혈모세포 이식은 캘리포니아대학교 샌프란시스코 캠퍼스에서 캘리포니아 재생의학연구소(California Institute for Regenerative Medicine, CIRM)와 공동으로 개발 중입니다. 이 치료법은 현재 태아를 출산하기 위한 유일한 치료법은 빈혈을 치료하고 부종과 태아 사망의 합병증을 피하기 위해 적혈구 자궁내 수혈(IUT)을 하는 것뿐이라는 사실에 기반하고 있습니다. 대부분의 경우, 이 질환에 걸린 임산부는 진단 후 선택적 낙태를 하게 되는데, ATM의 산전 진단을 받고 IUT를 받은 후 출생 시까지 생존한 환자는 적절한 기증자를 찾게 되면 결국 매달 평생 수혈이나 골수 이식을 받아야 합니다. 이번 임상 1상 시험은 ATM에 걸린 태아에게 자궁내 줄기세포 이식을 시행하는 것의 안전성, 실행가능성, 유효성을 입증하는 것을 목표로 하고 있습니다.
주요 조사 결과
알파 지중해빈혈의 주요 7 시장(미국, 독일, 스페인, 이탈리아, 프랑스, 영국, 일본)에 대해 조사분석했으며, 각 지역의 시장 규모, 현재 치료법, 미충족 요구, 신약 등의 정보를 제공하고 있습니다.
DelveInsight's " Alpha thalassemia Drugs Market Insights, Epidemiology, and Market Forecast - 2034" report delivers an in-depth understanding of Alpha thalassemia, historical and forecasted epidemiology as well as the Alpha thalassemia market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
The Alpha thalassemia Drugs Market Report provides current treatment practices, emerging drugs, Alpha thalassemia market share of individual therapies, and current and forecasted Alpha thalassemia market size from 2020 to 2034, segmented by seven major markets. The report also covers current Alpha thalassemia treatment market practices/algorithms and Alpha thalassemia unmet needs to curate the best of the opportunities and assess the underlying potential of the Alpha Thalassemia drugs market.
Alpha Thalassemia Treatment Market
Alpha (a) thalassemia refers specifically to the abnormal or absent manufacturing of alpha-globin chains. These are associated with more than 15 different genetic mutations. The severity of the clinical condition is based on the mutation type. The severity of mutation is based on which of the two alpha-globin loci is affected. Mutations can also be deletions or non-deletion. In deletion mutation, there is an inheritance of a single alpha-globin gene. With the non-deletion type, a patient has inherited two a-globin genes, but one gene carries a nondeletion abnormality, for example, point mutation.
In nondeletion, the severity of clinical expression is also affected depending on whether the mutation blocks the production of the remaining normal alpha chains partially or fully. Hemoglobin H disease occurs when only one normal alpha gene has been inherited. One of these most common non-deletion subtypes of Hemoglobin H is Hemoglobin Constant Spring. Hemoglobin H (HbH) disease tends to be more severe in patients with nondeletion type, likely due to interference with the transcription of the normal a chain gene by the abnormal one.
Alpha thalassemia Diagnosis
Diagnosing alpha thalassemia requires a thorough assessment, including medical history, physical exam, and lab tests like CBC and hemoglobin electrophoresis. Genetic testing is crucial for confirmation, pinpointing mutations in alpha-globin genes. Prenatal screening may be considered for families with a history of the condition. This comprehensive approach ensures accurate diagnosis and effective management for those with alpha thalassemia.
Alpha Thalassemia treatment depends on the severity and type of the condition. In Transfusion-dependent thalassemia (TDT), individuals relying on regular blood transfusions for survival, management aims to address complications and maintain optimal haemoglobin levels. This includes closely monitoring iron levels and managing iron overload through chelation therapy. In non-transfusion-dependent cases, where regular transfusions are not needed for survival but may be required during periods of stress, treatment focuses on managing symptoms and complications. This may involve blood transfusions during acute crises and measures to support overall health and well-being. Early detection and appropriate management are essential for improving outcomes and quality of life for individuals with alpha thalassemia.
The Alpha thalassemia epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the total diagnosed prevalent cases of alpha thalassemia, diagnosed prevalent cases of alpha thalassemia based on transfusion requirement, treatment eligible cases of alpha thalassemia in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.
Alpha Thalassemia Recent Developments
Alpha Thalassemia Drugs Chapters
The drug chapter segment of the alpha thalassemia market outlook report encloses a detailed analysis of the late-stage (Phase III ) and mid-stage (Phase II/III and Phase II) Alpha Thalassemia pipeline drugs. The current key Alpha Thalassemia Companies include Agios Pharmaceuticals (Mitapivat), Novo Nordisk (Etavopivat), and Bristol-Myers Squibb (Luspatercept). The drug chapter also helps understand the Alpha thalassemia clinical trials details, pharmacological action, agreements and collaborations, approval, and patent details, and the latest Alpha thalassemia news and press releases.
Alpha thalassemia Emerging Drugs
Mitapivat is a first-in-class, investigational, oral, small-molecule allosteric activator of wild-type and a variety of mutated pyruvate kinase R (PKR) enzymes. The company expects to release the results of the ENERGIZE-T trial in the second quarter of 2024. Additionally, they are aiming for regulatory approval of the drug in 2025 and are strategizing to initiate clinical trials for pediatric thalassemia.
In January 2024, Agios Pharmaceuticals announced that the global Phase III ENERGIZE study of mitapivat in adults with non-transfusion dependent (NTD) alpha-or beta-thalassemia achieved its primary endpoint of hemoglobin response.
Etavopivat is an investigational, oral, selective red blood cell pyruvate kinase-R (PKR) activator designed to be a disease-modifying therapy initially being studied for the treatment of SCD. The company is currently evaluating the drug in a Phase III trial for patients with thalassemia TD/NTD. Novo Nordisk and Forma Therapeutics entered into a definitive agreement under which Novo Nordisk acquired Forma Therapeutics in September 2022.
By employing a multimodal approach, etavopivat is designed to work by activating the RBCs' natural PKR activity to decrease 2,3-DPG levels, which leads hemoglobin to hold on to oxygen molecules longer to reduce polymerization and RBC sickling. Etavopivat-mediated PKR activation also increases ATP levels, the fuel that provides energy to cells, to improve RBC health and survival. Together, these effects are anticipated to increase hemoglobin levels and decrease painful vaso-occlusive crises. Currently, the drug is being investigated in a Phase II clinical trial in patients with thalassemia.
Alpha Thalassemia Drugs Markets Insights
Pyruvate kinase is a key enzyme in glycolysis, the sole source of adenosine triphosphate, which is essential for all energy-dependent activities of red blood cells. Activating Pyruvate kinase shows great potential for treating a broad range of hemolytic anemias beyond Pyruvate kinase deficiency because it also enhances the activity of wild-type Pyruvate kinase. Motivated by observations of sickle-cell complications in sickle-trait individuals with concomitant Pyruvate kinase deficiency, activating endogenous Pyruvate kinase offers a novel and promising approach for treating patients with sickle-cell disease.
TMPRSS6 is a serine protease highly expressed in the liver. Its role in iron regulation was first reported in 2008 when mutations in TMPRSS6 were shown to be the cause of iron-refractory Iiron Deficiency Anemia (IRIDA) in humans and mouse models. TMPRSS6 functions as a negative regulator of the expression of the systemic iron-regulatory hormone hepcidin. Over the last decade and a half, a growing understanding of TMPRSS6 biology and mechanism of action has enabled the development of new therapeutic approaches for patients with diseases of erythropoiesis and iron homeostasis.
Most of the attention in the field of thalassemia is given to the research and development of drugs for patients with (B)-thalassemia even though (a)-thalassemia is almost universally fatal in utero and represents an orphan disease with an unmet need for effective therapies. The current market does not hold any FDA or EMA-approved drugs for patients with a-thalassemia. Despite the lack of current treatment options, only a handful of drugs are in development. Any medication, if approved, may capture a major share of the market due to the lack of treatment options for this patient pool.
Some treatments include blood transfusions, iron chelation therapy to manage iron overload, and bone marrow transplantation in severe cases. In addition, the pipeline holds in-utero hematopoietic stem cell transplantation for a-thalassemia major (ATM). The HSCT is in development by the University of California, San Francisco, in collaboration with the California Institute for Regenerative Medicine (CIRM). The treatment is based on the fact that the only current treatment to allow the fetus to be born is to perform in-utero transfusions (IUT) of RBCs to treat the anemia and avoid the complications of hydrops and fetal demise. Often, affected pregnancies undergo elective termination after diagnosis. Cases with the prenatal diagnosis of ATM who receive IUT and survive to birth will ultimately require lifelong monthly blood transfusions or bone marrow transplants if a suitable donor is identified. The Phase I clinical trial is aimed to demonstrate the safety, feasibility, and efficacy of performing in-utero stem cell transplantation on fetuses affected with ATM.
Key Findings
This section focuses on the uptake rate of potential Alpha thalassemia drugs expected to be launched in the market during 2024-2034. The Alpha Thalassemia treatment market landscape has experienced a transformation with the uptake of novel drugs. These innovative therapies are redefining standards of care. Furthermore, the increased uptake of these transformative drugs is a testament to the unwavering dedication of hematologists and other professionals and the entire healthcare community in their tireless pursuit of advancing healthcare. This momentous shift in treatment paradigms is a testament to the power of research, collaboration, and human resilience. AG-348 (Mitapivat) is an allosteric activator of red blood cell pyruvate kinase that increases enzymatic activity, protein stability, and ATP levels. It is expected that the drug will enter the market by 2025.
Alpha thalassemia Pipeline Development Activities
The Alpha thalassemia drugs market report provides insights into therapeutic candidates in Phase III, Phase II/III, and Phase II. It also analyzes Alpha thalassemia companies involved in developing targeted therapeutics. Alpha thalassemia companies like Agios Pharmaceuticals, Novo Nordisk, Bristol-Myers Squibb, and others actively engage in late and mid-stage research and development efforts for alpha thalassemia. The pipeline alpha thalassemia possesses few potential drugs. However, there is a positive outlook for the therapeutics market, with expectations of growth during the forecast period (2024-2034).
Pipeline Development Activities
The Alpha thalassemia pipeline segment covers information on collaborations, acquisitions and mergers, licensing, and patent details for Alpha thalassemia emerging therapy.
KOL Views
To keep up with current Alpha thalassemia drugs 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. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the Alpha thalassemia unmet needs. Our in-house conference/congress intelligence experts gather information from various websites of congresses and analyze the data to map the KOLs attending the congresses
Qualitative Analysis
We perform Qualitative and Alpha Thalassemia drugs market Intelligence analysis using various approaches, such as SWOT analysis and Analyst views. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst's discretion and assessment of the patient burden, cost analysis, and existing and evolving Alpha thalassemia treatment landscape.
Alpha Thalassemia Drugs Market Access and Reimbursement
Reimbursement of rare disease therapies can be limited due to lack of supporting policies and funding, challenges of high prices, lack of specific approaches to evaluating rare disease drugs given limited evidence, and payers' concerns about budget impact. The high cost of rare disease drugs usually has a limited impact on the budget due to the small number of eligible patients being prescribed the drug. From a patient perspective, health insurance and payer coverage guidelines surrounding rare disease treatments restrict broad access to these treatments, leaving only a small number of patients who can bypass insurance and pay for products on their own. Insured patients in the United States are typically granted access to rare disease drugs. This is due to several factors, including about half of rare diseases affecting children, which makes management difficult without coverage after approval.
Alpha Thalassemia Therapeutics Market Report Scope
7.10.Centers for Disease Control and Prevention (CDC)