How Congress could come together to help kids with rare diseases

In the US today, approximately 30 million people live with a rare disease, about half of whom are children. While many of these diseases are inherited at birth, they are also chronic, can worsen over time, and are often life-threatening. As the 118th Congress begins in January and works to identify areas of bipartisan compromise – accelerating diagnosis, advancing cures and supporting access to patient care for these 15 million kids can be a bipartisan victory.

It is important to recognize achievements from the 117th Congress that will disproportionately benefit kids with rare disease. In particular, the reauthorization of the Prescription Drug User Fee Act included the establishment of a Rare Disease Endpoint Advancement (RDEA) Pilot Program. This new program seeks to advance rare disease drug development programs by providing new ways for clinical trial sponsors to collaborate with the U.S. Food & Drug Administration (FDA). This will support identification of new endpoints to measure a medicine’s effectiveness, hopefully leading to more effective rare disease therapies while reaching patients sooner. This program is a noteworthy example of the progress that can be accomplished when policymakers and the innovative biopharmaceutical community collaborate with patients’ best interests in mind. Yet, with over 90% of rare diseases without an FDA-treatment, there is so much work left to do.

With many complex rare diseases, getting an accurate diagnosis can be half the battle for families. The Newborn Screening Saves Lives Act would build on the successful state and federal partnership to expand newborn screening which allows for timely diagnosis for kids with inherited rare diseases. Each year, nearly 4 million babies are screened in the United States, and newborn screening identifies a potentially devastating condition in 1 out of 178 of these kids. The Senate should act to reauthorize this critical program that will allow for continued early diagnosis and intervention which is not only beneficial to families but also to the health care system. 

Once a child has an accurate diagnosis, the next question for families is whether there is a treatment option available, or even a treatment option under development for their particular rare disease. While more than 7,000 diseases have been recognized as “rare diseases”, less than 10% have an available treatment, so the need to develop new therapies and get them to patients is urgent.

In the U.S. House, Republican Brad Wenstrup (R-Ohio) and Democrat Doris Matsui (D-California) crafted bipartisan legislation that would allow families to play a more prominent role in accelerating the approval of new treatments and cures. The Better Empowerment Now to Enhance Framework and Improve Treatments (BENEFIT) Act would require that patient experience data, including from the FDA’s Patient-Focused Drug Develop Program – is formally incorporated into the FDA’s benefit-risk framework for drug approval. 

Everyone can agree that we should work together to accelerate cures for children living with rare, debilitating conditions. It takes a robust health care ecosystem – supported by impactful public policy ensuring innovation and access – to bring medicines to patients who literally have no other options. While many the names of many rare diseases – from epidermolysis bullosa to Aarskog Syndrome, acromicric dysplasia to valinemia – may be a mystery to many Americans, approximately 15 million children are living with these difficult-to-pronounce (let alone treat) diseases every day.