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Fighting Rare Diseases

Biopharmaceutical companies are developing 566 medicines to treat rare diseases.

The National Institutes of Health estimates that there are approximately 7,000 rare diseases affecting 30 million Americans

Rare diseases, when taken together, are not that rare at all. According to the National Institutes of Health (NIH), 30 million Americans, or 10 percent of the population, have one of the nearly 7,000 known rare diseases. A disease is defined as rare when it affects fewer than 200,000 people in the United States.

Simply getting to a diagnosis of a rare disease can be a complicated, lengthy and frustrating journey for people because many health care providers may have limited experience with the identification and diagnosis of rare diseases. Also, diagnosis before symptom onset or diagnosis early in the disease can be challenging.  

This is, however, a time of progress and hope. Biopharmaceutical researchers have leveraged new technologies and the growing scientific understanding of many rare diseases to develop groundbreaking therapies over the last 10 years. In the last decade, more than 230 new orphan drugs were approved by the U.S. Food and Drug Administration (FDA). In 2015 alone, nearly half (47 percent) of novel new drug approvals were for rare diseases. 

More than 560 Medicines in Development

Today, there are 566 medicines in development for patients with rare diseases. Medicines in development include therapies for multiple myeloma, cystic fibrosis, amyotrophic lateral sclerosis (ALS) and enzyme deficiency disorders, providing treatment options for patients that had few or no treatment options before.

View the Full Medicines in Development Report

Seeking New Treatments for Children with a Rare Disease

The National Institutes of Health estimates that 50 percent of people affected by rare diseases are children, making rare diseases a particularly deadly and debilitating concern for children worldwide. Rare diseases are responsible for 35 percent of deaths in the first year of life and 30 percent of children with a rare disease will not live to see their fifth birthday.

Encouragingly, one in three of the nearly 3,000 treatments with orphan designation are for children. In addition to the Orphan Drug Act, two other laws have made a significant impact on pediatric research. The Best Pharmaceuticals for Children Act (BPCA) and the Pediatric Research Equity Act (PREA) have resulted in a wealth of useful information about dosing, safety, and efficacy.


Of Rare Diseases Have a Treatment

The FDA has approved more than 500 orphan drugs since the passage of the Orphan Drug Act. Despite this, only 5 percent  of rare diseases currently have a treatment, and there is much more work to be done.

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A Decade of Innovation in Rare Diseases

Rare diseases are one of the most scientifically complex health challenges of our time. There are currently 7,000 known rare diseases, half of which affect children.

View the Full Report

Medicines in the Pipeline

The 566 medicines in development for rare diseases employ exciting new scientific and technical knowledge. Many of the medicines, which offer hope for those suffering from one of the nearly 7,000 rare diseases, represent innovative new ways to target disease, including those included here.”

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Related Medicines

  • Therapies in development for ALS

    include antisense technology against SOD1 (2 percent of ALS) currently in clinical trials and mutations in C9orf72 (10 percent of ALS) anticipated to be in clinical trials in 2017. Additional approaches include gene therapy and stem cell approaches for ALS with several new trials using stem cells about to be initiated in 2016 and 2017.

  • An investigative fusion protein

    is in development to treat beta thalassemia, a blood disorder that reduces production of hemoglobin, the protein in red blood cells which carries oxygen to the body’s cells. The investigational therapy regulates late-stage red blood cell production to increase hemoglobin levels and reduce transfusion burden.



View and download resources that highlight innovations in treatment, and provide more information on the rare diseases that currently affect thousands of Americans.