Rare Diseases

Progress in Fighting Rare Diseases

Rare diseases, when taken together, are not that rare at all. According to the National Institutes of Health (NIH), 30 million Americans and 400 million worldwide have one of the approximately 7,000 known rare diseases. A disease is defined as a rare or orphan disease when it affects fewer than 200,000 people in the United States. The need for new treatments and cures is reflected in the unique hardships and challenges that patients and their families face. Obtaining a diagnosis can be a long arduous process due to lack of physician awareness and access to screening. And once a diagnosis is obtained, often later in disease progression, the prognosis may be life threatening. The burden of rare disease is a driving factor in the commitment of the biopharmaceutical industry to help these patients and their families.

Infographic displaying statistics about the challenges facing pharmaceutical treatment for rare diseases

Progress & Unmet Need

We’ve seen incredible advances in the development of medicines to treat patients with rare diseases as researchers uncover the molecular and genomic drivers of many conditions. Rare diseases are biologically complex and scientists are working hard to uncover the underlying causes and the clinical course of individual rare diseases. America’s biopharmaceutical researchers are leveraging new technologies and the growing understanding of the genetic basis for many rare diseases to develop groundbreaking therapies to meet this unmet need.

Biopharmaceutical industry researchers continue are making progress in the fight against rare diseases as innovative science has opened new opportunities. Today, there are and more than 700 medicines are in the current biopharmaceutical pipeline.

Despite recent progress, there is still much more work to be done. In fact, less than 10% of rare diseases have an approved treatment option.

Spurring Innovation

The Orphan Drug Act (ODA) has been instrumental to increasing research into rare diseases. Since the enactment of ODA in 1983, more than 600 orphan drugs and biological products have been approved in the U.S., including 20 U.S. Food and Drug Administration (FDA) approvals for rare diseases in 2022 alone, compared with just 10 in the decade before passage.

The ODA provides incentives for rare disease R&D, as it can be especially challenging to develop new treatments for rare diseases. Specifically, these incentives help increase the chances that companies who invest in rare disease research, and manage to get an orphan drug approved, will recoup their costs. Among other incentives, the ODA provides a 7-year market exclusivity period during which the FDA may not approve the same drug for the same orphan indication. These incentives help protect investments and encourage companies to embark on the necessary highly risky research when marketbased incentives are insufficient.

Challenges in Rare Disease Drug Development

Developing medicines to treat rare diseases presents scientific and operational challenges. The complex biology of many rare diseases presents unique hurdles for scientists, making it difficult to design and implement a drug development program. Within a particular rare disease, there can be many variations or subtypes resulting in different clinical manifestations and disease progressions. Additionally, due to the inherently small population of patients with a rare disease, recruiting for and conducting clinical trials can be difficult.

Despite these challenges, America’s biopharmaceutical researchers have leveraged new technologies and the growing scientific understanding of many rare diseases to develop groundbreaking therapies in recent years, including:

The first treatments directed at treating the underlying causes of cystic fibrosis
Significant advances in targeted therapies for many forms of blood cancer, including chronic lymphocytic leukemia, chronic myelogenous leukemia, and multiple myeloma
New medicines that can prevent or slow the impact of several extremely rare, devastating conditions including pulmonary arterial hypertension, hereditary angioedema, and Gaucher disease
The first therapies available to treat many rare pediatric diseases, including a progressive, metabolic disease called hypophosphatasia (HPP), an inherited genetic disease called lysosomal acid lipase (LAL) deficiency, and neuroblastoma, a rare form of cancer that occurs in nerve cells and the brain