Biopharmaceutical research and development has ushered in a decade of innovation in rare disease

Samantha Hinkle
Samantha Hinkle February 28, 2022

Biopharmaceutical research and development has ushered in a decade of innovation in rare disease.

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This year on Rare Disease Day, we join families and communities around the world building awareness around rare diseases and encouraging patients to share their stories.

Over the past decade, a new era of innovation led by biopharmaceutical companies has translated basic science into a growing pipeline of groundbreaking new medicines, leading to remarkable progress for patients with rare diseases. By definition, a rare or “orphan” disease affects fewer than 200,000 people in the United States. But collectively the impact of these diseases is much larger: 30 million Americans and 400 million people worldwide are living with a rare disease.i

A new report, A Decade of Innovation in Rare Diseases, highlights critical scientific advances in the treatment of many rare diseases and the impact new medicines have had on the lives of patients and their families. Throughout the last decade, America’s biopharmaceutical researchers have made significant progress in the development of groundbreaking therapies for rare diseases. The progress highlighted in the report includes those seen for patients with hemophilia A, spinal muscular atrophy, juvenile idiopathic arthritis, inherited retinal diseases, and transthyretin amyloid cardiomyopathy. The report further spotlights where rare diseases were impacted by treatments bringing significant advances to patients and other potential advancements in the pipeline today, as well as several rare disease areas that are just on the cusp of significant innovation due to cutting edge research.

While treatment advances for rare diseases highlighted in the report are profound, these advances only scratch the surface of the progress that has been made for the broader rare disease community in recent years. Over the last decade, over 350 orphan drugs were approved by the U.S. Food and Drug Administration (FDA) — improving patients’ quality of life, and in many cases, allowing patients to live longer, healthier lives.ii These advancements offer significant progress for patients, especially for those with diseases for which treatment options had previously been limited or lacking. However, this incredible progress sits on a backdrop of continued unmet medical need. Still less than 10% of the known rare diseases have an approved treatment available.iii 

Unfortunately, the development of new therapeutic options remains a challenge as the underlying cause of many rare diseases is often not well understood and biomarkers for diagnosis and treatment are often evasive, reflecting the complexity of both the diseases and the potential treatments. Additionally, clinical trials are uniquely difficult as inherently small patient populations can hinder recruitment of patients and slow the assessment of safety and efficacy for a new treatment. Owing to many of these challenges, it can take nearly four years longer to develop a medicine to treat a rare disease relative to medicines to treat more common conditions.iv

Despite these challenges, biopharmaceutical companies pursue high-risk, resource-intensive research and development to produce groundbreaking innovations for these patient communities. There are currently over 700 medicines in development for rare diseases, including crucial treatments in patient populations with significant unmet needs like rare cancers, a wide range of genetic disorders and neurological disorders like ALS.v

The remarkable progress made in the development of new medicines for rare diseases in the last decade is a testament to a policy and regulatory environment which incentivizes and rewards innovation. This environment is further supported by the Orphan Drug Act (ODA) which since 1983 has provided critical incentives to support research and development of new medicines to treat rare diseases.vi The ODA has been widely regarded as a success, as over 600 orphan drugs have been approved since the passage of the ODA, in contrast to fewer than 10 medicines for rare diseases in the decade prior to its enactment.vii

To continue to advance new treatments and overcome the significant hurdles in the development of these medicines, we need to sustain our robust biomedical research ecosystem. This includes supporting public policies that will advance the innovation needed to address the significant ongoing unmet need faced by many with rare diseases today. Patients with rare diseases and their families depend on it.

Click here to read the new report, Decade of Innovation in Rare Diseases.


i Global Genes. “Rare Disease Facts.” https://globalgenes.org/rare-disease-facts/

ii U.S. Food and Drug Administration. Orphan Drug Designation and Approvals Database. http://www.accessdata.fda.gov/scripts/opdlisting/oopd

iii Center for Drug Evaluation and Research. Rare disease cures accelerator. U.S. Food and Drug Administration. https://www.fda.gov/drugs/regulatory-science-research-and-education/rare-disease-cures-accelerator. Published November 13,2020.

iv Tufts Center for the Study of Drug Development. Impact Report: Growth in rare disease R&D is challenging development strategy and execution,” July/August 2019.

v PhRMA. https://phrma.org/resource-center/Topics/Medicines-in-Development/Medicines-in-Development-for-Rare-Diseases-2021-Report. 2021

vi U.S. FDA. “Developing Products for Rare Diseases & Conditions.” http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/default.htm.

vii U.S. FDA. “Developing Products for Rare Diseases & Conditions.” http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/default.htm.

Topics: Research and Development, Rare Diseases