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Rare Disease Treatment Market Size By Drug Type (Biologics, Non-biologics), By Therapeutic Area (Cancer, Blood-related Disorders, Central Nervous System (CNS), Respiratory Disorders, Musculoskeletal Disorders, Cardiovascular Disorders), By Patient (Adult, Pediatric), By Route of Administration (Oral, Injectable), Industry Analysis Report, Regional Outlook, Application Potential, Price Trends, Competitive Market Share & Forecast, 2020 – 2026

  • Report ID: GMI3873
  • Published Date: Nov 2020
  • Report Format: PDF

Industry Trends

Rare Disease Treatment Market size exceeded USD 144.3 billion in 2019 and is poised to grow at over 12.2% CAGR between 2020 and 2026. Growing prevalence of rare diseases and its consequences on healthcare expenditure have augmented the demand for special treatments, positively impacting the rare disease treatment market growth.

The increasing focus on research activities and development of novel therapeutic drugs has uplifted the rare disease treatment market value. Additionally, growing product developments is leading to implementation of technologically driven innovative devices in diagnosis of rare genetic disorders. Moreover, favorable government policies aiming at creating awareness pertaining to the rare disease treatment is leading to increased adoption of effective treatments of rare disorders.

Rare Disease Treatment Market
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However, there are several factors hindering the efficient and effective clinical trials of drug development of rare disorders including low patient numbers, limited understanding of pathology and progression, and lack of established endpoints. Therefore, several regulatory bodies are engaged in implementing regulatory standards for drug approval for rare diseases to ensure patient safety and efficacy of drugs. The U.S. FDA is specifically focusing on development of gene therapy approaches for rare disease treatments. The National Institute of Health (NIH) and Food and Drug Administration (FDA) regulate the training and guidance to improve the quality and marketing of NIH-funded rare diseases orphan drugs. Additionally, NIH has also initiated several broader programs to support drug delivery for rare diseases.

The ongoing COVID-19 pandemic is an unprecedented public health concern and has posed several challenges to researchers, healthcare professionals and patients. The R&D institutions and biopharmaceutical industries are unable to focus on the development of novel therapies due to the threat of exposure to coronavirus. According to a COVID-19 Community Survey report by the National Organization for Rare Disorders (NORD), around 74% of patients suffering from rare disorders in the U.S. face challenges in accessing high-quality medications. Therefore, to eliminate such difficulties, FDA is working proactively with manufacturers towards providing advanced treatments to ensure the continuity of patient care by focusing on continuing clinical trials. Several biopharmaceutical companies are also focusing on drug development to meet the demand for treatment of rare disorders. Thus, during the pandemic the drugs used for rare disease treatments are being developed at a slow pace, restricting the rare disease treatment market expansion.

Growing incidence of rare disorders will fuel the market growth

Increase in number of rare diseases will drive the growth of the rare disease treatment market. According to a published article by the Journal of Rare Disorders (2020), there are approximately 7,000 classified rare disorders and around 70% of these disorders have no treatment. Hence, ongoing research for the unmet rare disease treatments will result in several market growth opportunities in the future. In addition, according to the Global Genes Project, approximately 300 million people worldwide are affected by rare diseases. This high prevalence of people suffering from rare disorders will require special drugs, thereby augmenting the adoption of rare disease treatments.

According to the European Organization for Rare Diseases (EURORDIS) estimates, approximately, 6% to 8% of the population in European Union is affected by a rare disorder. Therefore, several research laboratories are focusing on R&D to meet the demand for specific therapeutics for treatment of rare disorders such as fatal familial insomnia and rare cardiovascular disorders, among others. Moreover, several rare disorders are fatal and around 50% to 60% of these disorders develop in childhood. Thus, with growing pediatric population suffering from rare disorders, the demand for specific therapeutic drugs is projected to substantially increase in the coming years. Furthermore, with rise in incidence of rare disease cases, several biopharmaceutical companies are investing in clinical trials of novel drugs pertaining to rare disease treatments.

Growing preference for biologic drugs will augment the rare disease treatment market revenue

Rare Disease Treatment Market

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Biologics segment value in the rare disease treatment market was more than USD 124 billion in 2019 owing to the potential of biologics to effectively elicit an immune response in the recipient. According to a recently published article, the U.S. FDA has approved around 22 novel drugs and biologics for more than 800 rare disease indications. In addition, growing research activities in genomics has led to the development of effective biologics for rare genetic disorders. These factors have significantly increased the demand for biologic drugs. Moreover, several biologics such as recombinant, antibody, stem cells and gene therapy have proven to be effective in the treatment of rare cancer disorders.

Increasing prevalence of cancer disorders will foster the rare disease treatment market expansion

Cancer segment is estimated to expand at 12.5% CAGR during the forecast period due to rising prevalence of several types of cancer disorders across the globe. According to a published article, more than two-thirds of cancers in patients with less than 20 years of age are rare. The high prevalence and worst outcomes of rare cancer disorders have urged the scientists to develop effective treatments for rare cancer disorders. According to the National Cancer Institute, the International Rare Cancer Initiative (IRCI) was established to make practice-changing clinical trials of drugs for rare cancer disorders.

Higher prevalence of rare disorders in children will boost the market demand

Pediatric segment size in the rare disease treatment market crossed USD 29 billion in 2019 led by increasing number of drugs available for children suffering from rare diseases. According to a recently published report, around 80% of the rare diseases are genetic in origin and disproportionately impact children. Therefore, a total of 136 drugs are approved by the U.S. FDA for treatment of pediatric patients with rare disorders. These drugs have proven to be effective in treatment of rare disorders in pediatric population such as Byler disease and Krabbe disease.

Growing preference for oral route of administration will impel the market growth

Oral route of administration segment held significant rare disease treatment market share in 2019 and was valued at more than USD 80 billion. The significant share of the market is owing to several advantages such as safety, good patient compliance, ease of ingestion and no chances of pain in oral route of administration. In addition, scientists have developed an oral drug, Migalastat, to treat patients with Fabry disease, a rare genetic disorder and has proven to be effective in the treatment of the disease. Therefore, rise in awareness pertaining to the efficacy of such drugs has led to an increased adoption of oral route of administration in rare disease treatment.

Increase in demand for novel therapeutics will boost the regional market size expansion

Rare Disease Treatment Market

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U.S. rare disease treatment market revenue was around USD 82 billion in 2019 on account of the improved economy and rising healthcare expenditure resulting in increasing the development of research institutions in the country. Growing number of government initiatives in the region is also contributing to the market growth trends in the country. According to a published report, the orphan drugs act under the U.S. legislation allows manufacturers to request FDA to grant orphan drugs status to drugs in order to treat a rare disease or condition. Hence, such initiatives have the potential to expand the industry in the country.

Japan dominated the rare disease treatment market in Asia Pacific and was valued at more than USD 10.3 billion in 2019. The high market size is owing to the increase in biomedical and regenerative medicine research in the country. Japanese government has established support systems and special regulatory authorities to augment the development of novel drugs for rare disease treatment. The support system measure in Japan includes grant-in-aid for research programs along with price control policies negotiated by Japanese National Health Insurance (NIH) and pharmaceutical companies, and medical reimbursement for 56 diseases.

Presence of strong market players implementing strategic initiatives

Some of the major players operating in the rare disease treatment market include AbbVie Inc., Actelion Pharmaceuticals Ltd, Alexion Pharmaceuticals, Inc., Celgene Corporation, Bayer AG, Johnson & Johnson Services, Inc., Novartis AG, Pfizer Inc, Sanofi and Eli Lilly and Company. These players are implementing several strategic acquisitions, mergers, collaborations and partnerships in order to expand customer base and strengthen their industrial position. The investment by these players in recent years has created opportunities for the global expansion of the industry.

The rare disease treatment market research report includes an in-depth coverage of the industry with estimates & forecast in terms of revenue in USD from 2015 to 2026, for the following segments:

Market, By Drug Type

  • Biologics
  • Non-biologics

Market, By Therapeutic Area

  • Cancer
  • Blood-related Disorders      
  • Central Nervous System (CNS)      
  • Respiratory Disorders         
  • Musculoskeletal Disorders   
  • Cardiovascular Disorders    
  • Others

Market, By Patient

  • Adult
  • Pediatric

Market, By Route of Administration

  • Oral
  • Injectable

The above information is provided for the following regions and countries:

  • North America
    • U.S.
    • Canada
  • Europe
    • Germany
    • UK
    • France
    • Italy
    • Spain
  • Asia Pacific
    • Japan
    • China
    • India
    • Australia
    • South Korea
  • Latin America
    • Brazil
    • Mexico
    • Argentina
  • Middle East & Africa
    • South Africa
    • Saudi Arabia
    • UAE


Authors: Sumant Ugalmugle, Rupali Swain

Frequently Asked Questions (FAQ) :

The global market share for rare disease treatment is anticipated to register over 12.2% CAGR over the estimated period with increasing R&D for the development of novel therapeutic drugs.

Biologic drugs segment in the industry vas valued at over USD 124 billion in 2019 as they have the potential to elicit an immune response in the recipient and are developed to treat rare genetic disorders.

The cancer therapeutics segment is estimated to expand at 12.5% CAGR up to 2026 with high incidence of critical outcomes from rare cancer disorders urging researchers to formulate effective treatments.

In 2019, the U.S. market recorded revenues worth USD 82 billion owing to higher spending on healthcare and robust investments in clinical R&D.

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Premium Report Details

  • Base Year: 2019
  • Companies covered: 20
  • Tables & Figures: 249
  • Countries covered: 18
  • Pages: 200

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