賀勒氏症（第一型黏多醣症）：全球市場展望、流行病學、競爭格局與市場預測報告（32個主要市場），2025-2035年

市場概覽

• 義大利第一型黏多醣症市場預計將從 2025 年的 1,800 萬美元成長到 2035 年的 3,800 萬美元。
• 推動市場成長的因素如下：
• 酵素替代療法的推廣和新型基因療法的興起
• 透過新生兒篩檢和基因檢測提高診斷準確性。
• 未來的成長取決於能否出現根治性的治療方法和延緩疾病進展的療法。

賀勒氏症（第一型黏多醣症）概述

賀勒氏症是第一型黏多醣症中最嚴重的一種，這是一種罕見的體染色體隱性遺傳溶小體儲積症，由IDUA基因編碼的α-L-艾杜醣醛酸酶缺乏所引起。這會導致硫酸皮膚素和硫酸乙醯肝素在多個器官系統的溶小體中進行性累積。患者在嬰兒期出現進行性性神經系統惡化，其特徵為臉孔粗糙、肝脾腫大、多發性成骨不全、角膜混濁及認知功能下降。如不治療，可導致嚴重殘疾或過早死亡。診斷包括對尿糖Glico水平升高、白血球酶活性降低以及IDUA基因定序進行全面評估，以明確診斷。常規標準治療方案是在兩歲前進行異體造血幹細胞移植，以預防進行性認知功能下降，並在移植間隙靜脈注射作為臨時治療。然而，利用自體幹細胞的基因療法，例如OTL-203，從根本上改變了治療框架。這些療法能夠針對矯正代謝異常，而無需承擔與異體移植相關的移植物抗宿主疾病風險。此外，傳統的鞘內給藥研究已被能夠穿過血腦障壁的生物製藥所取代。現代神經酵素替代療法利用胰島素或轉鐵蛋白受體介導的胞吞作用抗體融合蛋白，這些蛋白能夠有效穿過血腦障壁，並透過每週一次的靜脈注射清除中樞神經系統中的硫酸乙醯肝素。為了維持患者的長期生存，多學科協作的治療仍然至關重要。

主要亮點

• 在德國，預計 2025 年接受治療的第一型黏多醣症症病例數將增加到 2035 年的 181 例。
• 黏多醣症1 型是一種罕見的遺傳性溶小體儲積症，其特徵是進行性多器官併發症。
• 早期診斷和及時治療對於減緩疾病進展和改善預後至關重要。
• 目前仍有大量未被滿足的需求，即需要能夠提供長期緩解疾病效果並改善生活品質的療法。

市場定義：

• 北美洲（美國、加拿大）
• 歐洲（奧地利、比利時、捷克、丹麥、芬蘭、法國、德國、希臘、義大利、荷蘭、挪威、波蘭、葡萄牙、俄羅斯、西班牙、瑞典、瑞士、英國）
• 中東（沙烏地阿拉伯、阿拉伯聯合大公國、科威特、土耳其）
• 亞太地區（澳洲、中國、香港、印度、印尼、日本、馬來西亞、紐西蘭、菲律賓、新加坡、韓國、台灣、泰國、越南）
• 非洲（埃及、奈及利亞、南非、摩洛哥）
• 南美洲/拉丁美洲（阿根廷、巴西、智利、哥倫比亞、墨西哥、秘魯）

格式化和更新訊息

• 詳細報告（PDF）
• 市場預測模型（基於微軟Excel）
• 流行病學數據（MS Excel，互動式工具）
• 高階主管洞察（PPT簡報）
• 其他功能：定期更新、自訂和顧問支援。
• 根據 Thelansis 的政策，我們確保所有最新更新在發布前都反映在報告內容和市場模型中。

主要問題

• 如何最佳化在 32 個市場（北美、歐洲、中東、亞太、非洲和南美/拉丁美洲）的藥物開發和生命週期管理策略？
• 從發病率、盛行率、人群組成以及接受藥物治療的患者人數來看，患者數量分別是多少？
• 未來十年市場收入和病患佔有率的預測是多少？
• 哪些因素對市場趨勢影響最大？
• 受訪專家對目前和新興的治療方法有何看法？
• 哪款在研發線產品最有前景？其上市潛力及未來市場定位如何？
• 主要未被滿足的需求是什麼？ KOL 對目標受眾有何期望？
• 為確保藥物獲得批准和順利進入市場，必須滿足哪些關鍵的監管和支付方要求？

目標國家

• 北美洲（美國、加拿大）
• 歐洲（奧地利、比利時、捷克、丹麥、芬蘭、法國、德國、希臘、義大利、荷蘭、挪威、波蘭、葡萄牙、俄羅斯、西班牙、瑞典、瑞士、英國）
• 中東

大公司

• JCR Pharmaceuticals Co., Ltd.
• Genzyme, a Sanofi Company
• REGENXBIO Inc.
• Immusoft of CA, Inc.
• Orchard Therapeutics

目錄

第1章：主要調查結果及分析師說明

• 主要趨勢：市場概況、SWOT分析、商業性利益與風險等。

第2章：疾病背景

• 疾病定義、分類、病因和病理生理學、藥物標靶等。

第3章：流行病學

• 重點
• 發病率/盛行率
• 已確診並正在接受藥物治療的患者族群。
• 合併症
• 其他相關患者群

第4章 市場規模及預測

• 重點
• 市場促進因素與限制因素
• 按藥物類別分類的趨勢
• 各國具體趨勢

第5章 競爭情勢

• 目前的治療方法
• 重點
• 診斷和治療過程/演算法
• 目前主要療法－概述及關鍵意見領袖見解
• 新興療法
• 重點
• 值得關注的後期新興療法—概述、市場上市預期和關鍵意見領袖見解
• 值得關注的早期研發管線

第6章：未滿足的需求與目標產品分析

• 尚未滿足的主要需求及其透過新興療法實現的潛力。
• TPP分析與KOL展望

第7章 監理與報銷環境

第8章附錄

Global Hurler Syndrome (MPS I) Market Outlook

Thelansis's "Global Hurler Syndrome (MPS I) Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report (Top 32 Markets) - 2025 To 2035" covers disease overview, epidemiology, kidney biopsy cases, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share, market uptake, market forecast, and key market insights under the potential Hurler Syndrome (MPS I) treatment modalities options for the 32 markets (North America, Europe, Middle East, Asia Pacific, Africa, South / Latin America).

Hurler Syndrome (MPS I) Overview

Hurler syndrome, the most severe form of mucopolysaccharidosis type I, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase encoded by the IDUA gene. This results in progressive intralysosomal accumulation of dermatan sulfate and heparan sulfate across multiple organ systems. Patients present in infancy with coarse facial features, hepatosplenomegaly, skeletal dysostosis multiplex, corneal clouding, and progressive neurological deterioration with cognitive regression, causing severe disability or early mortality if untreated. Diagnosis integrates elevated urinary glycosaminoglycans, deficient leukocyte enzyme activity, and confirmatory IDUA sequencing. Standard management historically relied on allogeneic hematopoietic stem cell transplantation before two years of age to prevent progressive cognitive decline, using intravenous laronidase as a somatic bridge. However, the treatment paradigm has been fundamentally transformed by autologous stem cell gene therapies like OTL-203, which provide targeted metabolic correction without the graft-versus-host risks of allogeneic transplant. Furthermore, historical intrathecal delivery investigations have been superseded by blood-brain barrier-penetrating biologics. Modern neuro-enzyme replacement therapies utilize insulin or transferrin receptor-mediated transcytosis antibody fusions, allowing systemic weekly intravenous infusions to successfully cross the blood-brain barrier and clear heparan sulfate from the central nervous system. Coordinated multidisciplinary care remains mandatory to preserve long-term survival.

Key Highlights

• In Germany, treated MPS Type I cases are projected to increase from 169 in 2025 to 181 by 2035.
• MPS Type I is a rare inherited lysosomal storage disorder associated with progressive multisystem complications.
• Early diagnosis and timely treatment are critical to slowing disease progression and improving outcomes.
• Significant unmet need remains for therapies that provide long-term disease modification and improved quality of life.

Market Overview

• The Italy MPS Type I market is projected to grow from $18M in 2025 to $38M by 2035.
• Market growth is driven by:
• Increasing adoption of enzyme replacement and emerging gene therapies
• Improved diagnosis through newborn screening and genetic testing
• Future growth will depend on the availability of curative and disease-modifying treatment options.

Market Definition:

• North America (United States, Canada)
• Europe (Austria, Belgium, Czech Republic, Denmark, Finland, France, Germany, Greece, Italy, Netherlands, Norway, Poland, Portugal, Russia, Spain, Sweden, Switzerland, United Kingdom)
• Middle East (Saudi Arabia, UAE, Kuwait, Turkey)
• Asia Pacific (Australia, China, Hong Kong, India, Indonesia, Japan, Malaysia, New Zealand, Philippines, Singapore, South Korea, Taiwan, Thailand, Vietnam)
• Africa (Egypt, Nigeria, South Africa, Morocco)
• South / Latin America (Argentina, Brazil, Chile, Colombia, Mexico, Peru)

Insights driven by robust research, including:

• In-depth interviews with leading KOLs and payers
• Physician surveys
• RWE analysis for claims and EHR datasets
• Secondary research (e.g., peer-reviewed journal articles, third-party research databases)

Deliverables format and updates*:

• Detailed Report (PDF)
• Market Forecast Model (MS Excel-based automated dashboard)
• Epidemiology (MS Excel; interactive tool)
• Executive Insights (PowerPoint presentation)
• Others: regular updates, customizations, consultant support
• As per Thelansis's policy, we ensure that we include all the recent updates before releasing the report content and market model.

Salient features of Market Forecast model:

• 10-year market forecast (2025-2035)
• Bottom-up patient-based market forecasts validated through the top-down sales methodology
• Covers clinically and commercially-relevant patient populations/ line of therapies
• Annualized drug-level sales and patient share projections
• Utilizes our proprietary Epilansis and Analog tool (e.g., drug uptake and erosion) datasets and conjoint analysis approach
• Detailed methodology/sources & assumptions
• Graphical and tabular outputs
• Users can customize the model based on requirements

Key business questions answered:

• How can drug development and lifecycle management strategies be optimized across the 32 markets (North America, Europe, Middle East, Asia Pacific, Africa, South / Latin America)?
• How large is the patient population in terms of incidence, prevalence, segments, and those receiving drug treatments?
• What is the 10-year market outlook for sales and patient share?
• Which events will have the greatest impact on the market's trajectory?
• What insights do interviewed experts provide on current and emerging treatments?
• Which pipeline products show the most promise, and what is their potential for launch and future positioning?
• What are the key unmet needs and KOL expectations for target profiles?
• What key regulatory and payer requirements must be met to secure drug approval and favorable market access?

Countries Covered

• North America (United States, Canada)
• Europe (Austria, Belgium, Czech Republic, Denmark, Finland, France, Germany, Greece, Italy, Netherlands, Norway, Poland, Portugal, Russia, Spain, Sweden, Switzerland, United Kingdom)
• Middle Ea

Companies Mentioned

• JCR Pharmaceuticals Co., Ltd.
• Genzyme, a Sanofi Company
• REGENXBIO Inc.
• Immusoft of CA, Inc.
• Orchard Therapeutics

Table of Contents

1. Key Findings and Analyst Commentary

• Key trends: market snapshots, SWOT analysis, commercial benefits and risks, etc.

2. Disease Context

• Disease definition, classification, etiology and pathophysiology, drug targets, etc.

3. Epidemiology

• Key takeaways
• Incidence / Prevalence
• Diagnosed and Drug-Treated populations
• Comorbidities
• Other relevant patient segments

4. Market Size and Forecast

• Key takeaways
• Market drivers and constraints
• Drug-class specific trends
• Country-specific trends

5. Competitive Landscape

• Current therapies
• Key takeaways
• Dx and Tx journey/algorithm
• Key current therapies - profiles and KOL insights
• Emerging therapies
• Key takeaways
• Notable late-phase emerging therapies - profiles, launch expectations, KOL insights
• Notable early-phase pipeline

6. Unmet Need and TPP Analysis

• Top unmet needs and future attainment by emerging therapies
• TPP analysis and KOL expectations

7. Regulatory and Reimbursement Environments (by country and payer insights)

8. Appendix (e.g., bibliography, methodology)