Orphan Diseases Market Analysis

Global Orphan Diseases Market Overview 

Orphan Diseases Market Size was valued at USD 193.95 Billion in 2023. The Global Orphan Diseases industry is projected to grow from USD 214.7 Billion in 2024 to USD 484.18 Billion by 2032, exhibiting a compound annual growth rate (CAGR) of 11.20% during the forecast period (2024 - 2032).

Orphan diseases are also popularly called rare diseases. The market for the orphan disease is growing rapidly in the forecast period. This disease affects a small percentage of the population across the World. Research says that most orphan diseases remain with the patient throughout life as it is genetic. The exact number of diseases are not found yet, but there are nearly more than 7000 various rare disorders and diseases are present across the World. 

The increasing patient population with a rare disease contributes to the global market throughout the review period. Moreover, the research and development initiatives are increasing day by day, fuelling the worldwide market growth. Also, the increasing adoption of orphan drugs is enhancing the market growth. 

According to the Orphan Diseases Market Trends report, the current market has some intended audiences who contribute to generating more scope and opportunities for the global market. These intended audiences are hospitals and clinics, medical research laboratories, orphan diseases drug manufacturers and suppliers, potential investors, government and independent regulatory authorities, market research and consulting service providers, and research and development (R&D) companies. 

Rare diseases accounted for half of the US Food and Drug Administration’s (FDA) approvals in January 2024, with most having fast-track designations leading to compressed time-to-market and increasingly competitive smaller-patient-population markets. Organizations need to embark on their project journeys at least 24-36 months before approval so as to fully understand the patient journey, effectively educate providers, foster advocacy, and get a clear path from diagnosis through treatment access. The early alignment to cross-functional strategy helps in making decisions about what should be prioritized and resources pre-approval used more judiciously.

Barely a year after it became a commercial biotech firm, Krystal Biotech is aiming high with its lead product. In May 2023, Krystal made history when Vyjuvek was approved by the FDA for treating dystrophic epidermolysis bullosa (DEB), a rare skin disorder, becoming the first ever skin-based gene therapy and the first-ever drug based on herpes simplex type 1 virus receiving such an approval. This topical gel contains genetically modified herpes simplex virus type I that is applied directly onto DEB lesions, thus delivering copies of the COL7A1 gene into them. Any touch causes tearing or blistering of these patients’ highly fragile skin, which results in open wounds that are prone to fibrosis and infections.

In October 2023, NORD® launched an English/Spanish educational series called “Rare Disease Drug Development: What Patients and Advocates Need to Know” in order to enable patients as well as disease-specific advocacy groups who are often unfamiliar with the development process of drugs. The modules come in varied formats like animated videos, expert interviews, infographics, fact sheets, checklists, or interactive quizzes catering to various learning styles among users.

India’s AstraZeneca entered into rare disease therapy in March 2023. The regulatory approval of its ‘Selumetinib’ demonstrates the company’s commitment to bring first-in-class, science-based therapies to patients in India. In addition, it is expected that the company will be able to address the major unmet needs of these patients who have rare diseases and transform their quality of life going forward. It was after acquiring Alexion in 2021 that AstraZeneca embarked on expanding its rare disease portfolio globally to include innovative therapies for Indian people with rare ailments.

COVID-19 Analysis 

In the health care sector, the workflow has been affected due to the arrival of the Covid-19 pandemic. At this time, many sub-domains of healthcare industries have shut their doors for a temporary period. 

Also, the global Orphan Diseases Market Value has decreased with the reduced access to healthcare specialists, limited operations in most industries, the decline in screening services, and inadequate funding. 

Orphan Diseases Market Trends

Key Market Drivers 

The global Orphan Diseases Market growth is driven due to the increasing prevalence of rare diseases across the World. Another important factor that enhances market growth is favorable government policies.

The US food and Drug Administration (US FDA) has estimated that since 1983, the Orphan Products Development (OOPD) organization has resulted in over 600 drugs and biologic products development and marketing for rare disorders. These kinds of initiatives are growing day-by-day that is fuelling the growth of the market during the assessment period.

The Orphan Diseases Market might face challenges due to the high cost of the orphan drug and the stringent rules and regulations of the government relating to the orphan drug.

Moreover, the manufacturing chain and supply chain have been affected during the pandemic period, which has brought major challenges for the global market due to the lack of transportation, workforce, etc. 

The growing novel indications for known orphan drugs are expected to bring lucrative opportunities for the global market players and manufacturers. 

Moreover, the market might go through significant opportunities due to the untapped emerging economies across the World. 

The global orphan diseases market growth might experience restraints due to the correct treatments, correct diagnosis and availability of healthcare facilities during the research period. 

Moreover, the lack of awareness might affect the growth of the market in the forecast period. In addition, the high cost associated with orphan drugs might hamper the growth of the global market. 

Cumulative Evaluation of The Market

While looking into the past records, the global Market has witnessed significant growth and is expected to continue to maintain the trend in the upcoming years.

As per the orphan diseases market analysis, the regional market players exist across regions like North America, Asia Pacific, and Europe, who contribute efficiently to enhance the market growth in the coming years. 

Orphan Diseases Market Segment Insights

Orphan Diseases types of diseases Insights

The global market has been classified as genetic disorders, oncological diseases, cardiovascular diseases, respiratory disorders, eye disorders, autoimmune disease, blood disorders, growth disorders, neurological disorders and others.

Further, the oncological disease is sub-divided into Pancreatic cancer, multiple myeloma, acute myeloid leukemia (AML), ovarian cancer, renal cell carcinoma, and others. In 2020, the oncological disease segment was anticipated to hold the largest orphan diseases market share due to the increasing awareness about cancer among the population, rise in prevalence of oncological disease, availability of oncological orphan drugs for all to treat cancer, and early screening of cancer. Further, this disease is estimated to maintain the dominating place throughout the research period. 

Orphan Diseases End-users Insights

The global market has been segregated into a research laboratory, hospital and clinics, and others depending on the end-user segment.

Among these, the hospital and clinic segments are estimated to generate the largest orphan diseases market size during the forecast period. This segment is growing due to the rising number of drugs administered by professional healthcare workers at the hospital. 

Orphan Diseases drug type Insights

On the basis of drug type segment, the global market has been divided into non-biologics and biologics. 

In 2019, the biologics segment was projected to dominate the global market by generating significant market share. On the contrary, the non-biologics segment is registered a low CAGR comparatively and generated a lower market share for the year.

Orphan Diseases treatment type Insights

The global market has been segregated into drug therapy, cell therapy, gene therapy, and others in terms of treatment type segment. 

Orphan Diseases treatment Regional Insights

Based on the regional segmentation, the global orphan diseases market has been spread across different geographical locations such as North America, Asia Pacific, South America, Europe, and the rest of the World. 

In the present global scenario, the North American region is estimated to dominate the global market by generating the largest market share throughout the research period. This region is expanding due to the presence of key players leading to the development of innovative and sophisticated products. Moreover, the strong patient population and the significant expenditure on orphan drugs are also contributing to the North American regional market growth. 

Apart from this region, the European market for Orphan Diseases is considered to be the second-largest growing market in the forecast period. This region has strong adoption of sophisticated rare disease therapeutics, which is fuelling the European market for Orphan Diseases. Moreover, the Asia Pacific market for Orphan Diseases is anticipated to expand at a significant rate throughout the research period due to the growing awareness of the rare disease and rising healthcare expenditure. Furthermore, the rest of the World, including the Middle East & Africa, and Latin America, is estimated to show steady growth during the forecast period because of the under penetration of the market for Orphan Diseases.

Competitive Intensity Within the Industry  

As per the Orphan Diseases Market Outlook report, the market players are the main contributors to the growth of the market for Orphan Diseases. These major market players include:

• Bristol-Myers Squibb Company (US), 


• CELGENE CORPORATION (US) 


• Novartis AG (Switzerland) 


• Pfizer Inc. (US) 


• AbbVie Inc. (US)


• F. Hoffmann-La Roche Ltd (Switzerland)


• Alexion (US)


• Vertex Pharmaceuticals Incorporated (US) 


• Merck & Co., Inc (US)


• Sanofi (French)


• GlaxoSmithKline plc. (UK).

These market players are spread across all parts of the globe and focus on the research and developmental activities relating to Orphan Diseases. Moreover, they are also doing partnerships, collaborations, mergers and acquisitions to enhance the orphan diseases market growth. Likely, they are aiming to show their presence to the World in the upcoming years. 

Recent Market Developments 

• In June 2020, the prominent market player Agios Pharmaceuticals, Inc. declared that the company had received the Orphan Drug Designation of FDA for their Mitapivat pipeline candidate to treat Thalassemia.


• In June 2020, the major key player Chiasma, Inc. declared that it had received approval from FDA for its Mycapssa product to treat a rare disorder, i.e., acromegaly. 

Report Overview 

The global market report highlights the market overview, segmentation, regional classification, competitive analysis, recent developments and market dynamics. This report is a qualitative and quantitative analysis of the market. 

According to the global orphan diseases market forecast report, the current market has been segmented based on the types of disease, end-users, and treatment type. 

Orphan Diseases treatment Market Segmentation 

Orphan Diseases treatment types of diseases Outlook

• genetic disorders, 


• cancer, 


• cardiovascular diseases, 


• respiratory disorders, 


• eye disorders, 


• autoimmune disorders, 


• blood disorders, 


• growth disorder, 


• neurological disorders, 


• digestive disorders, 


• others.

Orphan Diseases drug types Outlook

• non-biologics 


• biologics

Orphan Diseases End-users Outlook

• research laboratory, 


• hospital and clinics, 


• others.

Orphan Diseases treatment type Outlook

• drug therapy, 


• cell therapy, 


• gene therapy, 


• others.