ccording to the report by Expert Market Research (EMR), the global rare diseases treatment market size, is projected to grow at a CAGR of 12.7% between 2023 and 2031. Aided by the increasing prevalence of rare diseases worldwide, coupled with the growing investment in research and development activities, the market is expected to grow significantly by 2031.

Rare diseases, also known as orphan diseases, are characterised by their low prevalence rates, affecting a relatively small fraction of the population. Despite their rarity, the aggregate impact of these diseases is significant, with over 7,000 identified rare diseases affecting around 350 million people worldwide. Their treatment presents a unique set of challenges, including difficulties in diagnosis, limited research funding, and a small market for drug development. Despite these obstacles, advancements in genetic science and the introduction of novel therapies have brought renewed hope to the market.

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The surge in genetic research is a key factor propelling the rare diseases treatment market growth. The understanding of the genetic basis of many rare diseases has dramatically increased over the past few years, paving the way for targeted therapies. Next-generation sequencing techniques, gene therapies, and personalised medicine have been game-changers in treating conditions that were previously untreatable. The burgeoning field of CRISPR technology, with its potential to directly edit genes, holds significant promise for the future of rare disease treatment.

Furthermore, regulatory incentives are boosting the rare diseases treatment market development. Due to the small patient population, developing treatments for rare diseases often isn’t economically viable for pharmaceutical companies. To offset this, regulatory bodies like the FDA and EMA offer incentives like tax credits, fee waivers, and extended market exclusivity for orphan drugs. These incentives have spurred a rise in the number of orphan drugs in the development pipeline, boosting the market growth.

The rising healthcare spending worldwide is another contributing factor for the rare diseases treatment market expansion. As countries increase their healthcare budgets, more resources are being directed towards rare diseases. This trend, coupled with growing public awareness and patient advocacy, has led to improved diagnosis rates and access to treatments, further propelling the market.

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Segment-wise, oncology is one of the leading segments in the rare diseases treatment market due to the high prevalence of rare cancers and the introduction of novel therapies like CAR-T cell therapy. However, the neurological segment is projected to witness the fastest growth due to increased research and development activities in neurodegenerative and neurodevelopmental disorders.

Rare Diseases Treatment Market Segmentation

The market can be divided based on therapeutic area, route of administration, phase type, patient type, drug type, distribution channel, and region.

Market Breakup by Therapeutic Area

• Oncological Disorders
• Neurological Disorders
• Cardiovascular Disorders
• Musculoskeletal Disorders
• Haematological Disorders
• Infectious Disorders
• Metabolic Disorders
• Endocrine Disorders
• Others

Market Breakup by Route of Administration

• Oral
• Injectables
• Others

Market Breakup by Phase Type

• Preclinical Phase
• Phase I
• Phase III
• Phase IV

Market Breakup by Patient Type

• Neonates
• Paediatrics
• Adults
Market Breakup by Drug Type
• Biologics
• Non-Biologics
• Others

Market Breakup by Distribution Channel

• Hospital Pharmacies
• Retail Pharmacies
• Online Pharmacies

Market Breakup by Region

• North America
• Europe
• Asia Pacific
• Latin America
• Middle East and Africa

Competitive Landscape

The EMR report looks into the market shares, plant turnarounds, capacities, investments, and acquisitions and mergers, among other major developments, of the global rare diseases treatment companies. Some of the major key players explored in the report by Expert Market Research are as follows:

• F. Hoffmann-La Roche Ltd
• Pfizer, Inc.
• PTC Therapeutics
• AstraZeneca
• Novartis AG
• Bristol-Myers Squibb Company
• Takeda Pharmaceutical Company Limited
• Bayer AG
• AbbVie Inc.
• Merck & Co., Inc.
• Teva Pharmaceutical Industries Ltd.

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