希少疾患治療の市場規模、シェア、動向分析レポート：治療領域別、投与経路別、薬剤タイプ別、流通チャネル別、地域別、セグメント予測、2025年～2030年

希少疾患治療市場の成長と動向：

Grand View Research, Inc.の最新レポートによると、世界の希少疾患治療の市場規模は、2025年から2030年にかけてCAGR11.6%で拡大し、2030年までには3,743億9,000万米ドルに達すると推定されます。

希少疾患の有病率の増加が業界の成長に寄与しています。NCATS（National Center for Advancing Translational Sciences）によると、2022年には米国人口の3,000万人以上が希少疾患に罹患すると推定されています。希少疾患患者の増加は、予測期間中に希少医薬品の売上と需要を増加させると予想されます。

製薬企業が開発した潜在的な医薬品候補に希少疾患用医薬品の指定を提供することで製品開発を支援する希少疾患用医薬品法（Orphan Drug Act）のような政府当局による支援規制の存在は、業界の成長を支援すると予想されます。この取り組みは希少疾患治療分野の研究開発を後押しします。

2020年4月、米国希少疾患団体（NORD）は、COVID-19パンデミックの影響を受けた希少疾患患者のための「COVID-19クリティカル・リリーフ」プログラムを開始しました。このプログラムでは、NORDは希少疾患患者とその介護者の医療的・非医療的ニーズを満たすために、年間1,000米ドルを上限とする金銭的支援を行いました。このように、こういったプログラムが利用可能であることから、予測期間中、希少疾患治療の採用が促進されると予想されます。

さらに、企業は国際市場における製品の開発、製造、商業化のために提携やパートナーシップなどのイニシアチブをとっています。例えば、2020年8月、Sarepta Therapeutics, Inc.は、デュシェンヌ型筋ジストロフィー（DMD）を含む様々な希少疾患患者の治療のための新規遺伝子医薬品の開発のため、フロリダ大学と共同研究を開始しました。

しかし、希少疾患の正確かつ早期診断の欠如は、希少疾患患者にとってしばしば課題となります。さらに、希少疾患治療のための臨床試験に適格な患者の適格性や募集が、業界の成長を抑制する可能性もあります。対象患者を見つけることが難しいだけでなく、これらの患者を治療する医師を見つけることも複雑であるため、新製品の承認や市場での発売の遅れにつながっています。

希少疾患治療市場のレポートハイライト

• 治療領域別では、多発性骨髄腫、急性リンパ芽球性白血病、慢性骨髄性白血病、食道がんなどのがん適応症の有病率が高く、これらの疾患の患者の治療に希少疾患用治療薬が広く利用可能であることから、がん領域が2024年に28.2%の最大市場シェアで市場を独占しました。
• 投与経路別では、注射剤が2024年に65.5%の最大シェアを占めており、希少疾患患者におけるこの投与経路に関連する高い安全性、有効性、忍容性により、大きな成長が見込まれています。
• 薬剤タイプ別では、生物学的製剤が2024年に58.1%の最大シェアを占め、市場を独占しました。これは、支援的な償還政策の存在と、希少疾患の治療における疾患修飾療法としての生物学的製剤の高い有効性によるものです。
• 流通チャネル別では、希少疾患用医薬品を提供する専門薬局を支援する政府の取り組みにより、専門薬局が2024年に70.5%の最大シェアで市場を独占しました。例えば、2022年7月、利用審査認定委員会（URAC）は、高品質な希少疾患用治療薬を患者に提供しているとして、Maxor Specialty Pharmacyに希少疾患薬局センター・オブ・エクセレンスを授与しました。
• アジア太平洋は、予測期間中に有利な成長を遂げると予想されています。同地域の成長は、同地域への新製品の参入に起因しています。Illness Challenged Foundationによると、中国は2021年末までに47の希少疾患に対して87の希少疾患用治療薬を新たに承認しました。

目次

第1章 調査手法と範囲

第2章 エグゼクティブサマリー

第3章 希少疾患治療市場の変数、動向、範囲

• 市場系統の見通し
  • 親市場の見通し
  • 関連 / 付随市場の見通し
• 市場力学
  • 市場促進要因分析
  • 市場抑制要因分析
• 希少疾患治療市場分析ツール
  • 業界分析 - ポーターのファイブフォース分析
  • PESTEL分析

第4章 希少疾患治療市場：治療領域の推定・動向分析

• セグメントダッシュボード
• 希少疾患治療市場：治療領域変動分析
• 希少疾患治療市場：治療領域別の展望
• 市場規模・予測と動向分析、2018年～2030年
• がん
• 神経疾患
• 心血管疾患
• 筋骨格系の疾患
• 血液疾患
• 感染症
• 代謝障害
• 内分泌疾患
• その他

第5章 希少疾患治療市場：医薬品の推定・動向分析

• セグメントダッシュボード
• 希少疾患治療市場：医薬品変動分析
• 希少疾患治療市場：医薬品別の展望
  • 市場規模・予測と動向分析、2018年～2030年
• 生物学的製剤
• バイオシミラー
• 小さな分子

第6章 希少疾患治療市場：投与経路の推定・動向分析

• セグメントダッシュボード
• 希少疾患治療市場：投与経路の変動分析
• 希少疾患治療市場：投与経路別の展望
  • 市場規模・予測と動向分析、2018年～2030年
• 経口
• 注射可能
• その他

第7章 希少疾患治療市場：流通チャネルの推定・動向分析

• セグメントダッシュボード
• 希少疾患治療市場：流通チャネル変動分析
• 希少疾患治療市場：流通チャネル別の展望
  • 市場規模・予測と動向分析、2018年～2030年
• 病院薬局
• 専門薬局
• オンライン薬局

第8章 希少疾患治療市場：地域推定・動向分析

• 地域ダッシュボード
• 市場規模、予測動向分析、2018年～2030年：
• 北米
  • 米国
  • カナダ
  • メキシコ
• 欧州
  • 英国
  • ドイツ
  • フランス
  • イタリア
  • スペイン
  • ノルウェー
  • スウェーデン
  • デンマーク
• アジア太平洋
  • 日本
  • 中国
  • インド
  • オーストラリア
  • 韓国
  • タイ
• ラテンアメリカ
  • ブラジル
  • アルゼンチン
• 中東・アフリカ
  • 南アフリカ
  • サウジアラビア
  • アラブ首長国連邦
  • クウェート

第9章 競合情勢

• 企業分類
• 最近の動向と影響分析、主要市場参入企業別
• 企業市場シェア分析、2024年
• 企業概要
  • F. Hoffmann-La Roche Ltd.
  • Pfizer, Inc.
  • PTC Therapeutics Inc.
  • AstraZeneca
  • Novartis AG
  • Takeda Pharmaceutical Company Ltd
  • Bayer AG
  • AbbVie Inc.
  • Merck & Co. Inc.
  • Bristol Myers Squibb Company

List of Tables

• Table 1. List of secondary Sources
• Table 2. List of abbreviations
• Table 3. Global rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 4. Global rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 5. Global rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 6. Global rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 7. North America rare disease treatment, by region, 2018 - 2030 (USD Billion)
• Table 8. North America rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 9. North America rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 10. North America rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 11. North America rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 12. U.S. rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 13. U.S. rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 14. U.S. rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 15. U.S. rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 16. Canada rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 17. Canada rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 18. Canada rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 19. Canada rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 20. Mexico rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 21. Mexico rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 22. Mexico rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 23. Mexico rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 24. Europe rare disease treatment, by country, 2018 - 2030 (USD Billion)
• Table 25. Europe rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 26. Europe rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 27. Europe rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 28. Europe rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 29. UK rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 30. UK rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 31. UK rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 32. UK rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 33. Germany rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 34. Germany rare disease treatment, by drug 2018 - 2030 (USD Billion)
• Table 35. Germany rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 36. Germany rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 37. France rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 38. France rare disease treatment, by drug 2018 - 2030 (USD Billion)
• Table 39. France rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 40. France rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 41. Italy rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 42. Italy rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 43. Italy rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 44. Italy rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 45. Spain rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 46. Spain rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 47. Spain rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 48. Spain rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 49. Denmark rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 50. Denmark rare disease treatment, by drug 2018 - 2030 (USD Billion)
• Table 51. Denmark rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 52. Denmark rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 53. Norway rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 54. Norway rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 55. Norway rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 56. Norway rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 57. Sweden rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 58. Sweden rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 59. Sweden rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 60. Sweden rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 61. Asia Pacific rare disease treatment, by country, 2018 - 2030 (USD Billion)
• Table 62. Asia Pacific rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 63. Asia Pacific rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 64. Asia Pacific rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 65. Asia Pacific rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 66. Japan rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 67. Japan rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 68. Japan rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 69. Japan rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 70. China rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 71. China rare disease treatment, by drug 2018 - 2030 (USD Billion)
• Table 72. China rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 73. China rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 74. India rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 75. India rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 76. India rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 77. India rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 78. Australia rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 79. Australia rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 80. Australia rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 81. Australia rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 82. South Korea rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 83. South Korea rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 84. South Korea rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 85. South Korea rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 86. Thailand rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 87. Thailand rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 88. Thailand rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 89. Thailand rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 90. Latin America rare disease treatment, by country, 2018 - 2030 (USD Billion)
• Table 91. Latin America rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 92. Latin America rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 93. Latin America rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 94. Latin America rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 95. Brazil rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 96. Brazil rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 97. Brazil rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 98. Brazil rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 99. Argentina rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 100. Argentina rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 101. Argentina rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 102. Argentina rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 103. Middle East & Africa rare disease treatment, by country, 2018 - 2030 (USD Billion)
• Table 104. Middle East & Africa rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 105. Middle East & Africa rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 106. Middle East & Africa rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 107. Middle East & Africa rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 108. South Africa rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 109. South Africa rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 110. South Africa rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 111. South Africa rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 112. Saudi Arabia rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 113. Saudi Arabia rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 114. Saudi Arabia rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 115. Saudi Arabia rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 116. UAE rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 117. UAE rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 118. UAE rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 119. UAE rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)
• Table 120. Kuwait rare disease treatment, by therapeutic area, 2018 - 2030 (USD Billion)
• Table 121. Kuwait rare disease treatment, by drug, 2018 - 2030 (USD Billion)
• Table 122. Kuwait rare disease treatment, by route of administration, 2018 - 2030 (USD Billion)
• Table 123. Kuwait rare disease treatment, by distribution channel, 2018 - 2030 (USD Billion)

List of Figures

• Fig. 1 Information procurement
• Fig. 2 Primary research pattern
• Fig. 3 Market research approaches
• Fig. 4 Value chain-based sizing & forecasting
• Fig. 5 Market formulation & validation
• Fig. 6 Rare disease treatment market segmentation
• Fig. 7 Market driver analysis (current & future impact)
• Fig. 8 Market restraint analysis (current & future impact)
• Fig. 9 SWOT analysis, by factor (political & legal, economic and technological)
• Fig. 10 Porter's five forces analysis
• Fig. 11 Rare disease treatment market: Therapeutic area outlook and key takeaways
• Fig. 12 Cancer market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 13 Neurological Conditions market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 14 Cardiovascular Conditions market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 15 Musculoskeletal Conditions market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 16 Hematologic Disorders market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 17 Infectious Diseases market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 18 Metabolic Disorders market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 19 Endocrine Disorders market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 20 Others market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 21 Rare disease treatment market: Drug outlook and key takeaways
• Fig. 22 Rare disease treatment market: Drug movement analysis
• Fig. 23 Biologics market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 24 Biosimilar market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 25 Small molecules market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 26 Rare Disease Treatment Market: Regional outlook and key takeaways
• Fig. 27 Breast cancer liquid biopsy: Regional movement analysis
• Fig. 28 Rare disease treatment market: Route of administration outlook and key takeaways
• Fig. 29 Rare disease treatment market: Route of administration movement analysis
• Fig. 30 Oral market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 31 Injectable market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 32 Others market estimates and forecast, 2018 - 2030 (USD Billion)
• Fig. 33 Rare disease treatment market: Distribution channel outlook and key takeaways
• Fig. 34 Rare disease treatment market: Distribution channel movement analysis
• Fig. 35 Rare disease treatment market: regional key takeaways (USD billion)
• Fig. 36 Rare disease treatment market: regional outlook, 2023 & 2030, USD billion
• Fig. 37 North America rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 38 US rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 39 Canada rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 40 Mexico rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 41 Europe rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 42 UK rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 43 Germany rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 44 France rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 45 Spain rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 46 Italy rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 47 Norway rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 48 Denmark rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 49 Sweden rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 50 Asia Pacific rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 51 China rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 52 Japan rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 53 India rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 54 South Korea rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 55 Australia rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 56 Thailand rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 57 Latin America rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 58 Brazil rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 59 Argentina rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 60 Middle East and Africa rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 61 South Africa rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 62 Saudi Arabia rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 63 UAE rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 64 Kuwait rare disease treatment market estimates and forecasts, 2018 - 2030 (USD billion)
• Fig. 65 List of key emerging company's/technology disruptors/innovators

Rare Diseases Treatment Market Growth & Trends:

The global rare disease treatment market size is estimated to reach USD 374.39 billion by 2030, expanding at a CAGR of 11.6% from 2025 to 2030, according to a new report by Grand View Research, Inc. Increasing prevalence of rare diseases contributes to industry growth. According to the National Center for Advancing Translational Sciences (NCATS), over 30 million of the U.S. population is estimated to be affected by rare diseases in 2022. Increasing prevalence of people living with orphan diseases is anticipated to increase the sales and demand for orphan medicines over the forecast period.

The presence of supportive regulations by government authorities, such as the Orphan Drug Act that support product development by offering the orphan drug designation to potential drug candidates developed by pharmaceutical companies, is expected to support industry growth. This initiative boosts the research and development in the field of orphan disease treatment.

In April 2020, the National Organization for Rare Disorders (NORD) launched the "COVID-19 critical relief" program for patients with rare diseases affected by the COVID-19 pandemic. Under this program, the NORD provided monetary assistance of up to USD 1,000 annually to orphan disease patients and their caregivers for fulfilling their medical and non-medical needs. Thus, the availability of such programs is anticipated to boost the adoption of rare disease treatment over the forecast period.

Moreover, companies have undertaken initiatives such as collaborations and partnerships for the development, manufacturing, and commercialization of products in the international market. For instance, in August 2020, Sarepta Therapeutics, Inc. entered into a collaboration with the University of Florida for the development of novel genetic medicines for the treatment of patients with various orphan diseases, including Duchenne Muscular Dystrophy (DMD).

However, a lack of accurate and early diagnosis of rare diseases can often present a challenge for orphan disease patients, and in some cases, an accurate diagnosis is not obtained for as long as five years. In addition, patient eligibility and recruitment of eligible patients for clinical trials for rare disease treatment may restrain the industry growth. Not only finding the target population is difficult but finding physicians who treat these patients is also complex, thus leading to delays in the new product approval and launch in the market.

Rare Diseases Treatment Market Report Highlights:

• By therapeutic area, cancer segment dominated the market with the largest market share of 28.2% in 2024 due to high prevalence of cancer indications such as multiple myeloma, acute lymphoblastic leukemia, chronic myeloid leukemia, and esophageal cancer and wide availability of orphan drugs for the treatment of patients with these conditions
• By route of administration, injectable segment dominated the market with the largest share of 65.5% in 2024 and is expected to witness significant growth owing to high safety, efficacy, and tolerability associated with this route of administration among rare disease patients
• By drug type, the biologics dominated the market with the largest share of 58.1% in 2024 due to the presence of supportive reimbursement policies and the higher efficacy of biologics as disease-modifying therapies for the treatment of rare diseases
• By distribution channel, the specialty pharmacy dominated the market with the largest share of 70.5% in 2024 due to government initiatives to support specialty pharmacies that provide orphan drugs. For instance, in July 2022, Utilization Review Accreditation Commission (URAC) awarded Maxor Specialty Pharmacy with the rare diseases pharmacy center of excellence for providing high-quality orphan drugs to patients
• Asia Pacific is expected to witness lucrative growth during the forecast period. The growth of the region can be attributed to the entry of new products into the region. According to Illness Challenged Foundation, China had approved new 87 orphan drugs for 47 rare diseases by the end of 2021

Table of Contents

Chapter 1. Methodology and Scope

• 1.1. Market Segmentation and Scope
• 1.2. Segment Definitions
  • 1.2.1. Therapeutic Area
  • 1.2.2. Drug
  • 1.2.3. Route of Administration
  • 1.2.4. Distribution Channel
  • 1.2.5. Regional Scope
  • 1.2.6. Estimates and forecasts timeline
• 1.3. Research Methodology
• 1.4. Information Procurement
  • 1.4.1. Purchased database
  • 1.4.2. GVR's internal database
  • 1.4.3. Secondary sources
  • 1.4.4. Primary research
  • 1.4.5. Details of primary research
• 1.5. Information or Data Analysis
  • 1.5.1. Data analysis models
• 1.6. Market Formulation & Validation
• 1.7. Model Details
  • 1.7.1. Commodity flow analysis (Model 1)
  • 1.7.2. Approach 1: Commodity flow approach
  • 1.7.3. Volume price analysis (Model 2)
  • 1.7.4. Approach 2: Volume price analysis
• 1.8. List of Secondary Sources
• 1.9. List of Primary Sources
• 1.10. Objectives

Chapter 2. Executive Summary

• 2.1. Market Outlook
• 2.2. Segment Outlook
  • 2.2.1. Therapeutic Area Outlook
  • 2.2.2. Drug Outlook
  • 2.2.3. Route of Administration Outlook
  • 2.2.4. Distribution Channel Outlook
• 2.3. Regional outlook
• 2.4. Competitive Insights

Chapter 3. Rare Disease Treatment Market Variables, Trends & Scope

• 3.1. Market Lineage Outlook
  • 3.1.1. Parent Market Outlook
  • 3.1.2. Related/ancillary market outlook
• 3.2. Market Dynamics
  • 3.2.1. Market Driver Analysis
    • 3.2.1.1. Rising investment in Research and Development
    • 3.2.1.2. Favorable Regulatory Frameworks
    • 3.2.1.3. Advances in Precision Medicine
  • 3.2.2. Market Restraint Analysis
    • 3.2.2.1. High Treatment Costs
• 3.3. Rare Disease Treatment Market Analysis Tools
  • 3.3.1. Industry Analysis - Porter's
    • 3.3.1.1. Bargaining power of suppliers
    • 3.3.1.2. Bargaining power of buyers
    • 3.3.1.3. Threat of substitutes
    • 3.3.1.4. Threat of new entrants
    • 3.3.1.5. Competitive rivalry
  • 3.3.2. PESTEL Analysis
    • 3.3.2.1. Political landscape
    • 3.3.2.2. Economic landscape
    • 3.3.2.3. Social landscape
    • 3.3.2.4. Technological landscape
    • 3.3.2.5. Environmental landscape
    • 3.3.2.6. Legal landscape

Chapter 4. Rare Disease Treatment Market: Therapeutic Area Estimates & Trend Analysis

• 4.1. Segment Dashboard
• 4.2. Rare Disease Treatment Market: Therapeutic Area Movement Analysis
• 4.3. Rare Disease Treatment Market by Therapeutic Area Outlook (USD Billion)
• 4.4. Market Size & Forecasts and Trend Analyses, 2018 to 2030 for the following
• 4.5. Cancer
  • 4.5.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.6. Neurological Conditions
  • 4.6.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.7. Cardiovascular Conditions
  • 4.7.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.8. Musculoskeletal Conditions
  • 4.8.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.9. Hematologic Disorders
  • 4.9.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.10. Infectious Diseases
  • 4.10.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.11. Metabolic Disorders
  • 4.11.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.12. Endocrine Disorders
  • 4.12.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 4.13. Others
  • 4.13.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)

Chapter 5. Rare Disease Treatment Market: Drug Estimates & Trend Analysis

• 5.1. Segment Dashboard
• 5.2. Rare Disease Treatment Market: Drug Movement Analysis
• 5.3. Rare Disease Treatment Market by Drug Outlook (USD Billion)
  • 5.3.1. Market Size & Forecasts and Trend Analyses, 2018 to 2030 for the following
• 5.4. Biologics
  • 5.4.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 5.5. Biosimilar
  • 5.5.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 5.6. Small molecules
  • 5.6.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)

Chapter 6. Rare Disease Treatment Market: Route of Administration Estimates & Trend Analysis

• 6.1. Segment Dashboard
• 6.2. Rare Disease Treatment Market: Route of Administration Movement Analysis
• 6.3. Rare Disease Treatment Market by Route of Administration Outlook (USD Billion)
  • 6.3.1. Market Size & Forecasts and Trend Analyses, 2018 to 2030 for the following
• 6.4. Oral
  • 6.4.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 6.5. Injectable
  • 6.5.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 6.6. Others
  • 6.6.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)

Chapter 7. Rare Disease Treatment Market: Distribution Channel Estimates & Trend Analysis

• 7.1. Segment Dashboard
• 7.2. Rare Disease Treatment Market: Distribution Channel Movement Analysis
• 7.3. Rare Disease Treatment Market by Distribution Channel Outlook (USD Billion)
  • 7.3.1. Market Size & Forecasts and Trend Analyses, 2018 to 2030 for the following
• 7.4. Hospital Pharmacy
  • 7.4.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 7.5. Specialty Pharmacy
  • 7.5.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)
• 7.6. Online Pharmacy
  • 7.6.1. Market Estimates And Forecast, 2018 - 2030 (USD Billion)

Chapter 8. Rare Disease Treatment Market: Regional Estimates & Trend Analysis

• 8.1. Regional Dashboard
• 8.2. Market Size, & Forecasts Trend Analysis, 2018 to 2030:
• 8.3. North America
  • 8.3.1. U.S.
    • 8.3.1.1. Key country dynamics
    • 8.3.1.2. Regulatory framework/ reimbursement structure
    • 8.3.1.3. Competitive scenario
    • 8.3.1.4. U.S. market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.3.2. Canada
    • 8.3.2.1. Key country dynamics
    • 8.3.2.2. Regulatory framework/ reimbursement structure
    • 8.3.2.3. Competitive scenario
    • 8.3.2.4. Canada market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.3.3. Mexico
    • 8.3.3.1. Key country dynamics
    • 8.3.3.2. Regulatory framework/ reimbursement structure
    • 8.3.3.3. Competitive scenario
    • 8.3.3.4. Mexico market estimates and forecasts 2018 to 2030 (USD Billion)
• 8.4. Europe
  • 8.4.1. UK
    • 8.4.1.1. Key country dynamics
    • 8.4.1.2. Regulatory framework/ reimbursement structure
    • 8.4.1.3. Competitive scenario
    • 8.4.1.4. UK market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.4.2. Germany
    • 8.4.2.1. Key country dynamics
    • 8.4.2.2. Regulatory framework/ reimbursement structure
    • 8.4.2.3. Competitive scenario
    • 8.4.2.4. Germany market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.4.3. France
    • 8.4.3.1. Key country dynamics
    • 8.4.3.2. Regulatory framework/ reimbursement structure
    • 8.4.3.3. Competitive scenario
    • 8.4.3.4. France market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.4.4. Italy
    • 8.4.4.1. Key country dynamics
    • 8.4.4.2. Regulatory framework/ reimbursement structure
    • 8.4.4.3. Competitive scenario
    • 8.4.4.4. Italy market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.4.5. Spain
    • 8.4.5.1. Key country dynamics
    • 8.4.5.2. Regulatory framework/ reimbursement structure
    • 8.4.5.3. Competitive scenario
    • 8.4.5.4. Spain market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.4.6. Norway
    • 8.4.6.1. Key country dynamics
    • 8.4.6.2. Regulatory framework/ reimbursement structure
    • 8.4.6.3. Competitive scenario
    • 8.4.6.4. Norway market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.4.7. Sweden
    • 8.4.7.1. Key country dynamics
    • 8.4.7.2. Regulatory framework/ reimbursement structure
    • 8.4.7.3. Competitive scenario
    • 8.4.7.4. Sweden market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.4.8. Denmark
    • 8.4.8.1. Key country dynamics
    • 8.4.8.2. Regulatory framework/ reimbursement structure
    • 8.4.8.3. Competitive scenario
    • 8.4.8.4. Denmark market estimates and forecasts 2018 to 2030 (USD Billion)
• 8.5. Asia Pacific
  • 8.5.1. Japan
    • 8.5.1.1. Key country dynamics
    • 8.5.1.2. Regulatory framework/ reimbursement structure
    • 8.5.1.3. Competitive scenario
    • 8.5.1.4. Japan market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.5.2. China
    • 8.5.2.1. Key country dynamics
    • 8.5.2.2. Regulatory framework/ reimbursement structure
    • 8.5.2.3. Competitive scenario
    • 8.5.2.4. China market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.5.3. India
    • 8.5.3.1. Key country dynamics
    • 8.5.3.2. Regulatory framework/ reimbursement structure
    • 8.5.3.3. Competitive scenario
    • 8.5.3.4. India market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.5.4. Australia
    • 8.5.4.1. Key country dynamics
    • 8.5.4.2. Regulatory framework/ reimbursement structure
    • 8.5.4.3. Competitive scenario
    • 8.5.4.4. Australia market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.5.5. South Korea
    • 8.5.5.1. Key country dynamics
    • 8.5.5.2. Regulatory framework/ reimbursement structure
    • 8.5.5.3. Competitive scenario
    • 8.5.5.4. South Korea market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.5.6. Thailand
    • 8.5.6.1. Key country dynamics
    • 8.5.6.2. Regulatory framework/ reimbursement structure
    • 8.5.6.3. Competitive scenario
    • 8.5.6.4. Thailand market estimates and forecasts 2018 to 2030 (USD Billion)
• 8.6. Latin America
  • 8.6.1. Brazil
    • 8.6.1.1. Key country dynamics
    • 8.6.1.2. Regulatory framework/ reimbursement structure
    • 8.6.1.3. Competitive scenario
    • 8.6.1.4. Brazil market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.6.2. Argentina
    • 8.6.2.1. Key country dynamics
    • 8.6.2.2. Regulatory framework/ reimbursement structure
    • 8.6.2.3. Competitive scenario
    • 8.6.2.4. Argentina market estimates and forecasts 2018 to 2030 (USD Billion)
• 8.7. MEA
  • 8.7.1. South Africa
    • 8.7.1.1. Key country dynamics
    • 8.7.1.2. Regulatory framework/ reimbursement structure
    • 8.7.1.3. Competitive scenario
    • 8.7.1.4. South Africa market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.7.2. Saudi Arabia
    • 8.7.2.1. Key country dynamics
    • 8.7.2.2. Regulatory framework/ reimbursement structure
    • 8.7.2.3. Competitive scenario
    • 8.7.2.4. Saudi Arabia market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.7.3. UAE
    • 8.7.3.1. Key country dynamics
    • 8.7.3.2. Regulatory framework/ reimbursement structure
    • 8.7.3.3. Competitive scenario
    • 8.7.3.4. UAE market estimates and forecasts 2018 to 2030 (USD Billion)
  • 8.7.4. Kuwait
    • 8.7.4.1. Key country dynamics
    • 8.7.4.2. Regulatory framework/ reimbursement structure
    • 8.7.4.3. Competitive scenario
    • 8.7.4.4. Kuwait market estimates and forecasts 2018 to 2030 (USD Billion)

Chapter 9. Competitive Landscape

• 9.1. Company Categorization
• 9.2. Recent Developments & Impact Analysis by Key Market Participants
• 9.3. Company Market Share Analysis, 2024
• 9.4. Company overview
  • 9.4.1. F. Hoffmann-La Roche Ltd.
    • 9.4.1.1. Company Overview
    • 9.4.1.2. Financial performance
    • 9.4.1.3. Product benchmarking
    • 9.4.1.4. Strategic initiatives
  • 9.4.2. Pfizer, Inc.
    • 9.4.2.1. Company Overview
    • 9.4.2.2. Financial performance
    • 9.4.2.3. Product benchmarking
    • 9.4.2.4. Strategic initiatives
  • 9.4.3. PTC Therapeutics Inc.
    • 9.4.3.1. Company Overview
    • 9.4.3.2. Financial performance
    • 9.4.3.3. Product benchmarking
    • 9.4.3.4. Strategic initiatives
  • 9.4.4. AstraZeneca
    • 9.4.4.1. Company Overview
    • 9.4.4.2. Financial performance
    • 9.4.4.3. Product benchmarking
    • 9.4.4.4. Strategic initiatives
  • 9.4.5. Novartis AG
    • 9.4.5.1. Company Overview
    • 9.4.5.2. Financial performance
    • 9.4.5.3. Product benchmarking
    • 9.4.5.4. Strategic initiatives
  • 9.4.6. Takeda Pharmaceutical Company Ltd
    • 9.4.6.1. Company Overview
    • 9.4.6.2. Financial performance
    • 9.4.6.3. Product benchmarking
    • 9.4.6.4. Strategic initiatives
  • 9.4.7. Bayer AG
    • 9.4.7.1. Company Overview
    • 9.4.7.2. Financial performance
    • 9.4.7.3. Product benchmarking
    • 9.4.7.4. Strategic initiatives
  • 9.4.8. AbbVie Inc.
    • 9.4.8.1. Company Overview
    • 9.4.8.2. Financial performance
    • 9.4.8.3. Product benchmarking
    • 9.4.8.4. Strategic initiatives
  • 9.4.9. Merck & Co. Inc.
    • 9.4.9.1. Company Overview
    • 9.4.9.2. Financial performance
    • 9.4.9.3. Product benchmarking
    • 9.4.9.4. Strategic initiatives
  • 9.4.10. Bristol Myers Squibb Company
    • 9.4.10.1. Company Overview
    • 9.4.10.2. Financial performance
    • 9.4.10.3. Product benchmarking
    • 9.4.10.4. Strategic initiatives