세계의 고셔병 치료 시장 규모는 2024년에 17억 6,000만 달러에 달하며, 2033년에는 22억 8,000만 달러에 달할 것으로 예측되며, 예측 기간인 2025-2033년의 CAGR은 2.9%로 성장할 전망입니다.
고셔병은 글루코세레브로시다아제(Glucocerebrosidase, 글루코실세라미다아제라고도 함)라는 효소의 결핍으로 인해 주로 비장, 간, 뼈, 골수 등 신체의 여러 장기에 글루코세레브로사이드(Glucocerebroside)라는 지방 물질이 축적되는 희귀한 유전성 대사 질환입니다. 이 축적은 고셔병의 유형과 영향을 받는 장기에 따라 심각도가 다른 다양한 증상을 유발합니다.
고셔병 치료 효소대체요법(ERT)이나 기질감소요법(SRT)과 같은 대안은 삶의 질을 크게 향상시키지만, 현재로서는 치료법이 없습니다. 유전자 치료가 장기적인 해결책이 될 수 있는 가능성이 제기되고 있지만, 아직 개발 중입니다. 현재 진행 중인 유전자 치료 연구와 치료의 진전에 주목하고 있는 기업은 유망합니다.
예를 들어 2024년 7월, 스퍼 테라퓨틱스는 고셔병 유전자 치료제 후보물질이 I/II상 시험에서 양호한 초기 데이터를 확보한 후 임상 3상 시험으로 전환한다고 발표했습니다. 치료 후보물질인 FLT201을 연구하고 있으며, FLT-201은 글루코실 세라미다제 베타(GBA1) 유전자 활성화 인자로 작용합니다. 이 유전자의 돌연변이는 고셔병의 원인이 됩니다. 이 약은 결손된 GBA1 유전자의 기능을 회복시켜 병을 완화시킵니다.
촉진요인과 억제요인
효소 보충 요법과 기질 감소 요법의 확장
효소 보충 요법과 기질 감소 요법의 확대는 고셔병 치료제 시장의 성장을 크게 촉진하고 있으며, 예측 기간 중에도 시장을 촉진할 것으로 예상됩니다. 효소대체요법은 고셔병 1형에 대한 가장 보편적이고 확립된 치료법입니다. 이는 고셔병 환자에게 결핍된 효소인 합성 글루코세레브로시다아제를 정맥으로 투여하여 글루코세레브로사이드의 분해를 돕고 간, 비장, 골수 등의 장기에 축적되는 것을 방지하는 치료법입니다.
예를 들어 FDA가 승인한 최초의 ERT 치료제인 이미글루세라제(셀레자임)는 여전히 표준으로 사용되고 있으며, 벨라글루세라제 알파(Vpriv)와 탈리글루세라제 알파(Elelyso)와 같은 다른 약물도 시장에서 인기를 얻고 있습니다. 이러한 효소 보충 요법은 고셔병 환자의 장기 비대(비장 및 간 비대)와 뼈 관련 합병증 치료에 큰 효과를 보이고 있습니다.
기질감소요법(SRT)은 효소대체요법의 대체요법 또는 보조요법으로, 특히 점적투여보다 내복약을 선호하는 환자나 효소대체요법을 견디지 못하는 환자에게 효과적이며, 고셔병에서 축적되는 기질인 글루코세레브로사이드의 생성을 감소시킴으로써 효과를 발휘합니다. 예를 들어 엘리글루스타트(셀델가), 미글루스타트(자베스카) 등이 고셔병에서 승인된 주요 기질 감소 요법입니다. 이들 약제는 경구 투여가 가능하며, 침습성이 높은 정맥내 ERT에 비해 환자의 순응도가 높습니다.
전반적으로 ERT와 SRT의 확대는 고셔병 치료제 시장의 성장에 중요한 역할을 하고 있습니다. 이러한 치료법은 환자의 예후를 개선할 뿐만 아니라 전 세계에서 치료 접근성을 향상시키고 있습니다. 특히 경구용 치료제(SRT)는 편의성이 높아 환자들의 치료 순응도를 높이는 데 도움이 되고 있습니다.
부작용과 긴 치료 기간
고셔병 치료, 특히 효소대체요법(ERT)과 기질제거요법(SRT)에 따른 부작용과 긴 치료기간은 고셔병 치료제 시장의 성장을 저해하는 주요 장벽으로 작용하고 있습니다. 이러한 치료법은 질병 관리에 매우 중요하지만, 환자의 순응도, 치료 보급 및 시장 확대에 영향을 미칠 수 있는 문제들이 있습니다.
ERT는 효과적이지만, 글루코세레브로시다아제(셀레자임, Vpriv, 엘레리소 등)의 정맥주입을 수반하므로 환자의 순응도 및 전반적인 치료 효과에 영향을 미칠 수 있는 몇 가지 부작용이 있습니다. 일반적인 부작용으로는 발열, 오한, 두통, 메스꺼움, 발열, 오한, 오심 등이 있으며, 종종 정맥주사 중 또는 정맥주사 후 발생합니다. 이러한 반응은 불편함을 유발하여 일부 환자는 치료를 계속하는 것을 주저하기도 합니다. 일부 환자는 효소에 대한 알레르기 반응을 일으켜 치료를 더욱 복잡하게 만들 수 있으므로 용량을 조정하거나 다른 치료법으로 전환해야 할 수도 있습니다.
에리글루스타트(셀델가)나 미글루스타트(자베스카)와 같은 SRT 치료제는 경구 투여가 용이하지만, 미글루스타트(자베스카)는 설사, 메스꺼움, 체중 감소와 같은 심각한 소화기 증상을 동반하여 치료 중단 및 복약 순응도 위반을 유발할 수 있습니다. 에리글루스타트(셀델가)는 내약성이 우수한 반면, 두통, 피로, 어지럼증을 유발할 수 있으며, 일부 환자에게는 충분한 사용이 제한될 수 있습니다.
ERT의 가장 큰 문제 중 하나는 평생(보통 2주마다) 정맥주사를 맞아야 한다는 점입니다. 이는 환자와 의료 시스템 모두에 몇 가지 장애물을 가져옵니다. 환자는 치료를 위해 정기적으로 의료기관을 방문해야 하는데, 이는 시간적 제약과 여행 비용 증가로 이어집니다. 특히 외딴 지역에 거주하는 환자에게는 더욱 어렵습니다. 지속적인 병원 방문과 투약은 부담이 되어 환자의 삶의 질을 떨어뜨립니다. 개발도상국 환자의 경우, 전문 클리닉이나 수액 센터에 대한 접근성이 제한적일 수 있습니다.
전반적으로 현재 고셔병 치료, 특히 ERT와 SRT의 부작용과 긴 치료기간은 치료 시장의 성장을 저해하는 심각한 장벽입니다. 이러한 문제들은 환자의 낮은 순응도, 높은 치료 비용, 특히 경제적으로나 의료적으로 제약이 있는 지역에서의 제한적인 도입에 영향을 미치고 있습니다. 또한 고셔병 2형과 3형 고셔병의 신경학적 증상을 치료하지 못한다는 사실은 치료의 효과와 호소력을 더욱 제한하고 있습니다.
이러한 과제를 극복하기 위해서는 치료 옵션의 혁신, 부작용 관리 개선, 치료의 경제성 및 접근성 개선이 시장 성장 확대에 필수적입니다.
The global Gaucher disease treatment market reached US$ 1.76 billion in 2024 and is expected to reach US$ 2.28 billion by 2033, growing at a CAGR of 2.9% during the forecast period 2025-2033.
Gaucher disease is a rare inherited metabolic disorder caused by a deficiency of an enzyme called glucocerebrosidase (also known as glucosylceramidase), which leads to the accumulation of a fatty substance called glucocerebroside in various organs of the body, primarily in the spleen, liver, bones and bone marrow. This accumulation can cause a wide range of symptoms that vary in severity depending on the type of Gaucher disease and the organs affected.
Gaucher disease treatment options such as enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) can significantly improve quality of life, but there is currently no cure. Gene therapy is emerging as a potential long-term solution, but it is still under development. The companies that are focusing on the ongoing research and treatment advancements in gene therapy are promising.
For instance, in July 2024, Spur Therapeutics announced that its gene therapy candidate for Gaucher disease would be moving to a Phase III trial after positive early data from a Phase I/II trial. The GALILEO-1 trial is investigating FLT201, an adeno-associated virus (AAV) gene therapy candidate, as a treatment for Gaucher disease. FLT-201 acts as a glucosylceramidase beta (GBA1) gene activator. Mutations in this gene cause Gaucher disease. The drug restores the function of the defective GBA1 gene and alleviates the condition.
Market Dynamics: Drivers & Restraints
Expansion of Enzyme Replacement and Substrate Reduction Therapies
The expansion of enzyme replacement and substrate reduction therapies is significantly driving the growth of the Gaucher disease treatment market and is expected to drive the market over the forecast period. Enzyme replacement therapy is the most common and established treatment for Type 1 Gaucher disease. It involves the intravenous administration of synthetic glucocerebrosidase, the enzyme deficient in individuals with Gaucher disease, which helps in breaking down glucocerebroside and preventing its accumulation in organs like the liver, spleen and bone marrow.
For instance, Imiglucerase (Cerezyme), the first ERT drug approved by the FDA, remains the gold standard, and other drugs like Velaglucerase alfa (Vpriv) and Taliglucerase alfa (Elelyso) are gaining traction in the market. These enzyme replacement therapies have demonstrated significant efficacy in treating organomegaly (enlarged spleen and liver) and bone-related complications in Gaucher patients.
Substrate reduction therapy (SRT) is an alternative or adjunct to enzyme replacement therapy, especially for patients who prefer oral medication over intravenous infusion or for those who cannot tolerate enzyme replacement therapy. SRT works by reducing the production of glucocerebroside, the substrate that accumulates in Gaucher disease. For instance, key drugs like Eliglustat (Cerdelga) and Miglustat (Zavesca) are the main substrate reduction therapies approved for Gaucher disease. These drugs can be taken orally, which increases patient compliance compared to the more invasive intravenous ERT.
Overall, the expansion of ERT and SRT has played a crucial role in the growth of the Gaucher disease treatment market. These therapies are not only improving patient outcomes but also enhancing treatment accessibility globally. The availability of oral therapies (SRT), in particular, offers significant convenience and helps increase patient adherence to treatment, while ERT continues to dominate due to its proven efficacy.
Side Effects & Long Treatment Duration
The side effects and long treatment durations associated with the treatment of Gaucher disease, particularly enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), present significant barriers that hamper the growth of the Gaucher disease treatment market. While these therapies are crucial for managing the disease, they come with certain challenges that may affect patient compliance, treatment adoption, and overall market expansion.
ERT, although effective, involves intravenous infusions of glucocerebrosidase (such as Cerezyme, Vpriv, and Elelyso), which are associated with several side effects that can impact patient adherence and overall treatment efficacy. Common side effects include fever, chills, headache, and nausea, often during or after the infusion. These reactions can cause discomfort and may discourage some patients from continuing treatment. Some patients develop allergic responses to the enzyme, which can further complicate treatment, leading to dose adjustments or switching to other forms of therapy.
SRT medications like Eliglustat (Cerdelga) and Miglustat (Zavesca), though easier to administer (oral), also come with significant side effects such as Miglustat (Zavesca) is associated with severe gastrointestinal symptoms such as diarrhea, nausea and weight loss, which can lead to discontinuation or non-compliance and Eliglustat (Cerdelga), while better tolerated, can cause headaches, fatigue and dizziness, limiting its full utilization in some patients.
One of the biggest challenges with ERT is that it requires lifelong intravenous infusions (typically every two weeks). This creates several hurdles for both patients and healthcare systems. Patients need to regularly visit healthcare facilities for treatment, leading to increased time commitments and travel expenses. This is especially difficult for patients living in remote areas. Continuous hospital visits and infusions can be burdensome and reduce the patient's quality of life. For patients in developing countries, access to specialized clinics and infusion centers may be limited.
Overall, the side effects and long treatment duration of current Gaucher disease treatments, particularly ERT and SRT, are significant barriers that hinder the growth of the treatment market. These issues contribute to poor patient compliance, high treatment costs, and limited adoption, especially in regions with financial or healthcare limitations. Additionally, the fact that treatments do not address the neurological symptoms of Type 2 and Type 3 Gaucher disease further limits their efficacy and appeal.
To overcome these challenges, innovation in treatment options, better management of side effects, and improvements in the affordability and accessibility of treatments will be essential for expanding market growth.
The global Gaucher disease treatment market is segmented based on disease type, treatment type, route of administration, end-user, and region.
The enzyme replacement therapy in the treatment type segment is expected to dominate with the highest market share.
Enzyme replacement therapy (ERT) has been the standard of care for Type 1 Gaucher disease for over two decades. It involves the intravenous infusion of a recombinant form of glucocerebrosidase (the enzyme deficient in Gaucher disease). ERT is highly effective in reducing spleen and liver enlargement, improving bone health, and increasing hemoglobin and platelet counts. For instance, Imiglucerase (Cerezyme), the first FDA-approved ERT, has been shown to significantly reduce splenomegaly and hepatomegaly, as well as improve bone mineral density and reduce painful bone crises.
Cerezyme (Imiglucerase) remains the market leader due to its long history, proven safety, and efficacy. It is used extensively worldwide and is widely accepted by physicians as the primary treatment for Type 1 Gaucher disease. In 2023, Cerezyme generated 720.02 million in net sales whereas, in 2024, Cerezyme generated USD 777.66 million, indicating its continued dominance in the treatment market. This dominance is due to the therapy's ability to address both the visceral (organ-related) and hematologic (blood-related) symptoms of the disease.
Additionally, Velaglucerase alfa (Vpriv) and Taliglucerase alfa (Elelyso), newer ERT products, also contribute to the growth of the ERT market, expanding treatment options for patients. These therapies are similar to Imiglucerase, offering additional options for patients who may not respond well to Cerezyme or who prefer a different treatment formulation.
One of the reasons ERT continues to dominate is that it is the primary long-term solution for Type 1 Gaucher disease. Patients often need lifelong treatment to manage their disease, which leads to continued use of ERT over extended periods. While the treatment requires intravenous infusions every two weeks, the efficacy in controlling symptoms makes it a preferred choice for many patients and healthcare providers.
The North America region is expected to hold a significant position in the Gaucher disease treatment market with the highest market share
Gaucher disease is more commonly diagnosed in North America, especially in the United States, compared to other regions due to a higher level of awareness, better healthcare systems, and more frequent genetic screening. According to the National Institute of Health (NIH), among the Ashkenazi Jewish population, Gaucher disease is the most common genetic disorder, with an incidence of approximately 1 in 450 persons. In the general public, Gaucher disease affects approximately 1 in 100,000 persons. As a result, North America has a higher number of diagnosed cases compared to other regions.
North America boasts a highly developed healthcare system, providing patients with access to state-of-the-art treatments such as enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). The availability of specialized treatment centers, including academic medical centers and rare disease clinics, ensures that patients with Gaucher disease receive the highest level of care.
For instance, the U.S. Food and Drug Administration (FDA) has been instrumental in the approval of key Gaucher disease treatments, such as Cerezyme (Imiglucerase), Vpriv (Velaglucerase alfa), and Elelyso (Taliglucerase alfa). The rapid approval process and support for biopharmaceutical innovation have ensured that the latest therapies are accessible to patients in North America soon after they are developed.
North America is a global leader in pharmaceutical research and development, with many leading pharmaceutical companies based in the U.S. actively involved in clinical trials and the development of innovative therapies for Gaucher disease. Companies such as Genzyme (Sanofi), Pfizer, Freeline Therapeutics, and Shire (part of Takeda) play a significant role in driving innovation and improving treatment options by performing clinical trials for Gaucher disease patients.
For instance, in May 2024, Freeline Therapeutics announced new clinical data from its ongoing Phase 1/2 GALILEO-1 trial of FLT201, its adeno-associated virus (AAV) gene therapy candidate for Gaucher disease, showing substantial reductions in glucosylsphinogsine (lyso-Gb1), one of the best predictors of clinical response, in patients with persistently high levels despite years of treatment with currently approved therapies, as well as early signs of clinical improvements in bone marrow burden and fatigue. FLT201 continues to demonstrate a favorable safety and tolerability profile.
The global Gaucher disease treatment market report delivers a detailed analysis with 52 key tables, more than 57 visually impactful figures, and 179 pages of expert insights, providing a complete view of the market landscape.
Target Audience 2024
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