What if your child had a rare disease that threatened to significantly shorten his or her life? That’s the reality for nearly 15 million U.S. children and their families.

Worldwide, more than 300 million people, including 25 million to 30 million Americans, have been diagnosed with a rare disease—a condition defined as affecting fewer than 200,000 people. For more than 90 percent of these conditions, there is no Food and Drug Administration (FDA)-approved treatment.

Today, on Rare Disease Day, Clinical Research Pathways joins individuals and organizations around the globe in raising awareness about rare diseases and their impact on patients and families.

  • Nearly 1 in 10 Americans has a rare disease.
  • About half of these patients are children. And 30 percent will not live to see their fifth birthday.
  • All pediatric cancers are considered rare.
  • Although most rare diseases are thought to be genetic, many—including infections, some rare cancers, and some autoimmune diseases—are not inherited.

At Clinical Research Pathways, we believe in the potential of high-quality, ethical clinical research to advance knowledge and improve health—for those with rare diseases and more common conditions. Gene therapy for example, is an approach that could prove promising for treating cancer and rare diseases such as spinal muscular atrophy (SMA), hemophilia, and mucopolysaccharidosis (MPS).

Because we also believe in health equity, Clinical Research Pathways focuses on opening access and advancing treatments for all. We offer expanded access resources to help desperately ill patients who want the chance to try investigational drugs, biologics, and medical devices when standard treatments are no longer working or there is no standard therapy available. These resources are also useful to treating physicians, who apply for expanded access on patients’ behalf, and to IRB members, who review expanded access requests to make sure the requested treatment doesn’t pose undue risks.

We have found that, too often, people simply don’t know where to turn. You can find more information on rare diseases at these and other sites: