How U.S. Policies Foster Rare Disease Research

Although they are categorized as rare, about 30 million Americans, or 10% of the population, are impacted by one of 7,000 rare diseases. 85% to 90% of these diseases are considered “serious or life threatening” and 80% are estimated to be genetic in origin.

Developing solutions for these diseases presents a unique scientific challenge for researchers and can require collaboration among stakeholders across the public and private sectors. Rare diseases are often biologically complex and much remains unknown about the underlying causes. Even within a particular rare disease, there can be many variations or subtypes resulting in different manifestations and disease progression. Additionally, due to the inherently small population of patients with a rare disease, diagnosing a rare disease, identifying patients and recruiting for and conducting clinical studies can be difficult.

The vast majority of rare diseases impact children and although advances in research have improved the lives of infants, children, adolescents and society at large, tremendous unmet needs remain. Currently, just 5% of rare diseases have an available treatment option.

America’s biopharmaceutical companies are leveraging new technologies and the growing understanding of the genetic basis for many rare diseases to develop groundbreaking therapies to meet these unmet needs.

In 2020 alone, The U.S. Food and Drug Administration’s (FDA) Center for Drug Evaluation and Research (CDER) approved 31 novel drugs to treat rare or “orphan” diseases that affect 200,000 or fewer Americans. Many of these new medicines offer treatment options to patients where few or none were previously available, including the first therapy approved by FDA to treat pediatric patients with Chagas disease (a rare parasitic disease that can cause congestive heart failure) and the first drug approved by the FDA to treat certain pediatric patients with neurofibromatosis type 1, a debilitating, progressive, and often disfiguring genetic disorder of the nervous system causing tumors to grow on nerves.

Many of these cutting-edge medicines may transform the lives of patients. For instance, gene therapies seek to modify or introduce genes into a patient’s body with the goal of treating, preventing or potentially curing a disease. In recent years, a growing number of gene therapies have become available to treat rare diseases like spinal muscular atrophy and a form of inherited retinal disease that commonly leads to blindness. Others are under investigation for the potential to treat conditions like hemophilia and sickle cell disease. A 2020 report notes that there are over 130 cell and gene therapies in development for rare diseases.

Looking ahead, the future has never been brighter as researchers continue to explore innovative approaches across the biopharmaceutical pipeline. Today, there are more than 1,000 medicines in development to treat patients with a broad range of rare diseases  with research showing that 31% of the medicines in the drug development pipeline are focused on treating patients with rare diseases.

Supportive Policies

For example, the 1983 Orphan Drug Act (ODA) provides incentives for rare disease R&D, as it can be especially challenging to develop new treatments for rare diseases. On average, it takes four years longer for rare disease medicines to successfully advance through clinical trials and to FDA approval relative to non-rare disease medicines. These incentives include an exclusive right to market the drug for the orphan indication for seven years after FDA approval. Since the bill’s enactment, the FDA has approved more than 950 orphan therapies. Comparatively, in the years prior to the legislation, only 10 medicines with orphan indications had been granted approval.

Additionally, the Prescription Drug User Fee Act (PDUFA) helps further advance the development and review of safe and effective new medicines, including those for rare diseases. The most recent reauthorization of PDUFA supports the efforts of CDER’s Rare Diseases Program to “facilitate, support, and accelerate the development of drug and biologic products for the benefit of patients with rare disorders.” ¹

Looking Ahead

Unprecedented scientific potential makes this a promising time for the battle against rare diseases. As conversations continue to take place about how to evolve the current research ecosystem to better support patients, it’s imperative these discussions recognize the need to maintain incentives for research and development.

For decades, a supportive policy framework has facilitated the advancements we’ve made against complex and challenging rare diseases, and it is critical to avoid slowing or disrupting the pipeline of new medicines to patients.

¹PhRMA analysis of AdisInsight database. February 22, 2021.