Report Description

Forecast Period


Market Size (2022)

USD 98.61 billion

CAGR (2024-2028)


Fastest Growing Segment

Hematologic Diseases

Largest Market

North America

Market Overview

Global Rare Disease Therapeutics Market has valued at USD 98.61 billion in 2022 and is anticipated to reach a CAGR of 10.42% through 2028. The global rare disease therapeutic market is a dynamic and increasingly significant sector in the realm of healthcare. Rare diseases, also known as orphan diseases, are characterized by their low prevalence in the population, affecting a limited number of individuals. Despite their rarity, collectively, rare diseases impact millions of people worldwide. This market is defined by its focus on developing and providing specialized treatments for these often life-altering and life-threatening conditions.

One of the key drivers of this market's growth is the advances in genetic research and understanding. As scientists delve deeper into the genetic underpinnings of rare diseases, they uncover potential targets for innovative therapies, including gene therapies and precision medicine approaches. These breakthroughs have opened new avenues for therapeutic development and offer renewed hope for patients with previously untreatable rare diseases. Regulatory incentives, such as the Orphan Drug Act in the United States and equivalent laws in other regions, have played a pivotal role in spurring investment in rare disease therapeutics. These incentives provide financial and regulatory advantages to pharmaceutical companies and researchers focused on developing treatments for rare diseases, making it a more attractive endeavor. Furthermore, increased awareness of rare diseases, driven by patient advocacy groups and healthcare organizations, has led to greater recognition of the unmet medical needs within this space. This heightened awareness has resulted in more resources being directed toward rare disease research and treatment development.

Targeted therapies designed specifically for rare diseases are another driving force behind market growth. These therapies are tailored to the unique genetic and molecular characteristics of the disease, promising improved efficacy and fewer side effects compared to traditional treatments. Expanding patient populations, as more rare disease cases are identified and diagnosed, further amplify the market's significance. Moreover, gene therapy advancements, characterized by innovative approaches like CRISPR-Cas9, have the potential to revolutionize rare disease treatment by directly addressing the genetic causes of these conditions.

Collaborations between academia and industry, as well as the involvement of global healthcare initiatives, are fostering a collaborative environment that accelerates rare disease therapeutic development. The market for rare disease therapeutics, driven by scientific progress, regulatory support, and a growing commitment to addressing the needs of rare disease patients, continues to evolve and expand, offering renewed hope and improved quality of life for those affected by these conditions.

Key Market Drivers

Rising Number of Patients with Rare Diseases

There are a lot of rare diseases in the medical world. Some are well-known, like cystic fibrosis or cat eye syndrome, while others are more obscure. Most cancers are rare and there are rare diseases of the brain and nervous system, metabolic diseases, chromosome disorders, skin, bone and skeletal, and diseases that affect the heart, blood vessels, lungs, kidneys and other organs and systems. A lot of rare diseases are named after the doctors who first diagnosed them, while others are named after patients or even the hospitals where they were first diagnosed.

An article published in the Journal of Rare Disorders in 2020 estimates that approximately 7,000 rare diseases have been diagnosed, with approximately 70% of them having no treatment available. As a result, research into unmet need of rare disease treatments will ensure that the market continues to expand in the future.

It is estimated that 6% to 8% of the population of the European Union is afflicted with a rare disease, as reported by EURORDIS. Furthermore, EURORDIS states that between 50-60% of rare diseases begin in infancy, and some of these conditions can be fatal. Consequently, it is expected that in the coming years, the demand for certain therapeutic drugs will rise significantly due to the growing pediatric population affected by rare diseases.

Initiatives taken by Government and Market Players

The growth of the market is expected to be supported by government regulations that promote the development of products, such as the orphan drug law, which allocates the classification of an orphan drug to drug candidates developed by pharmaceutical companies. This program facilitates the treatment of orphan diseases through the advancement of research and development.

Additionally, in 2021, Center for Drug Evaluation and Research (CDER) approved about 26 new orphan drugs to treat rare diseases. Some of these new orphan drugs include Lumakras, Scelendrix, Welireg, Amondys, Cytalux, Besremi, Empavelli, Evkeeza, Exkivity, fexinodazole, and Zymonta.

The COVID-19 “Critical Relief” program was launched in April 2020 by the National Policy for rare disorders (NPRD) for patients with rare diseases affected by the pandemic. Under this program, the NPRD provided orphan disease patients and guardians with financial assistance of up to USD 1,000 per year to cover their non-medical needs. These programs are expected to increase the adoption of rare disease treatment in the coming years.

The Indian government's National Policy on ‘Rare Diseases 2021’ was designed to reduce the prevalence and incidence of rare diseases through an integrated and comprehensive prevention strategy. This includes awareness generation, pre-marriage, post-marriage, pre-pregnancy, and post-pregnancy screening and counselling programs to prevent the birth of children with rare conditions, and, within the limitations of resources and conflicting health care priorities, to provide affordable health care to those with rare diseases who are eligible for one-time treatments or relatively inexpensive therapy.

In 2020, the U.S. FDA approved drugs to treat a disease with bladder dysfunction called neurogenic detrusor overactivity, observed in patients with spinal cord injury and multiple sclerosis.

In May 2022, the U.S. Food and Drug Administration (FDA) created a new program to accelerate the development of new treatments for rare diseases called the “Accelerating Rare Disease Cures” (ARC) Program, which is managed by the Center for Drug Evaluation and Research (CDER).

In May 2022, the European Medicines Agency (EMA) granted a marketing authorization for Xenpozyme (olipudasealfa), a therapy for the treatment of Non-Central Nervous System (NCS), manifestations of Acid Sphingomyelinase Deficiency (ASMD), a rare and degenerative genetic disorder.

Increasing Demand of Non-Biological Drugs to Treat Rare Diseases

Non-biologic drugs for rare diseases are therapeutic agents that have been chemically synthesized or produced through conventional pharmaceutical processes, rather than being obtained from biological sources. These drugs are commonly referred to as small molecule drugs and are the most widely used and recognized drug class in medicine.

Non-biologics drug segment is expected to grow at an impressive rate during the forecast period, on account of the immunogenicity and minimal side effects associated with such products. These drugs are deemed effective for treating certain conditions including APDS (activated phosphoinositide 3-kinase delta syndrome) and Felty Syndrome. These factors, alongside cost-effectiveness and non-complexity in clinical studies, are projected to augment the consumption of non-biologic medications among rare disease patients.

Non-biological medicinal products are generally composed of molecules with well-characterized chemical structure. These molecules are usually synthesized in the laboratory through chemical reactions. Most non-biological medications are orally administered, i.e., taken by mouth in tablet, capsule, or liquid form. This is a convenient and self-administered route of administration for patients.

Non-biologic drugs have the potential to address a broad range of molecular and cellular pathways and are employed in the treatment of a variety of medical conditions, such as rare diseases. Non-biological drugs are known to be highly stable and can be kept at room temperature without the need for refrigeration. Furthermore, the manufacturing process for these drugs is well-established, making them more suitable for large-scale production.

Once the patent protection of a non-biologic drug has expired, other pharmaceutical companies can produce and sell generic versions of the drug, thus increasing its availability and affordability.

Small molecule drugs are capable of functioning as inhibitors of enzymes that are involved in the process of disease. For example, imatinib is used to treat certain forms of leukemia and gastroenterological stromal tumors. Synthetic hormones are also used to treat rare endocrine disorders, such as hypothyroidism, with the aid of levothyroxine, and adrenal insufficiencies with the aid of hydrocortisone.

Certain small molecule drugs have the potential to modulate the immune system response, thus making them useful for the treatment of rare autoimmune conditions.

Growing Burden of CNS disorders can Drive the Development of Precision Treatments for Rare Diseases 

As the incidence and prevalence of rare diseases in the central nervous system (CNS) increase, there is an amplified need to gain a better understanding of the genetic, molecular, and biochemical substrates of these diseases. Genetics and neuroscience have enabled researchers to gain a greater understanding of the complexities of rare CNS disorders, allowing for the identification of disease-inducing mutations and pathways.

Rare disease treatment market value from the central nervous system is expected to accelerate in the forecast period, given the rising prevalence of disorders that affect nerve cells in the spinal cord and brain, causing loss of muscle control. Based on data from the National Library of Medicine, amyotrophic lateral sclerosis affects around 5 in 100,000 people worldwide. Moreover, the strong focus on the development of precision medicine will further drive the demand for therapies to treat rare diseases.

Precision medicine is a form of medical treatment that is tailored to the unique needs of each individual patient, considering factors such as genetics, lifestyle, and environment. In rare diseases of the central nervous system (CNS), where each condition is caused by a distinct genetic mutation, targeted therapies are becoming increasingly feasible. Understanding the genetic makeup of a patient’s disorder allows clinicians to design targeted therapies that address specific molecular defects.

Precision medicine is heavily reliant on biomarkers. These are things that can be measured to show the presence or progress of a disease. Developing precision treatments for rare diseases of the central nervous system often involves finding and testing biomarkers related to certain disorders. These biomarkers can help early diagnosis, track disease progress, and measure how well treatment is working.

As treatment options for rare CNS diseases are limited, precision medicine approaches involve examining the potential of drugs that have been developed for other conditions to treat a rare disease. By elucidating the molecular pathways associated with both the rare condition and other common conditions, researchers may be able to identify drugs that could potentially treat the rare CNS disorder.

The prevalence of rare diseases in the central nervous system (CNS) has prompted researchers and pharmaceutical manufacturers to pay greater attention to these conditions. The development of precision medicine techniques has made it simpler to conduct specific research on rare diseases, thus accelerating the development of drugs and overall market growth.