According to the National Organization for Rare Disorders (NORD), in the United States, a rare disease is defined as any disease that affects less than 200,000 people. Today, there are more than 7,000 rare diseases, which means more than 30 million Americans are impacted. That’s about 9% of our population – so, yes, rare diseases are prevalent.
This being the case, it’s important that we all have a certain level of awareness about rare disease. The following are some facts and figures we all should know.
Rare diseases can be neurological, metabolic, chromosomal, or skeletal and can impact all types of organs and systems. In fact, most cancers are considered rare diseases. And given the number of Americans affected, we are all likely linked to someone who has experienced a rare disease.
This year marks the 40th anniversary of the Orphan Drug Act, which Congress enacted to encourage and incentivize pharmaceutical companies to develop treatments for rare diseases. More than 1,100 potential treatments have obtained FDA approval since.
Patient advocacy groups play an extraordinary role in supporting and educating patients, caregivers, healthcare providers, and pharmaceutical companies on the complexity of the diagnosis, management, and treatment of rare diseases. These groups’ impact ranges from running local support efforts to advocating for policy changes among elected officials.
The use of specialist hospital sites for patient recruitment and the collection of data for rare disease clinical trials can pose a barrier to patients, however. The COVID-19 pandemic has led to an overall increase in decentralized clinical trials (DCT). The FDA defines a DCT as a clinical trial “executed through telemedicine and mobile/local healthcare providers using processes that differ from the traditional clinical trial model.” Given its convenience, this model could lead to an increase in patients’ global access to rare disease clinical trials.
Each year, NORD releases its annual State Report Card, which evaluates how all 50 states are working to help patients with rare diseases. Among the most notable achievements in 2022, 24 states signed legislation creating a Rare Disease Advisory Council. These councils will serve as an advisory body to elected officials and give a voice to those with rare diseases. In addition, 12 states expanded their eligibility for Medicaid, which widens access to medical care for rare disease patients. Several states also passed legislation that will reduce out-of-pocket prescription costs.
While our knowledge on the treatment and prevention of rare diseases is increasing, there is still plenty of progress to be made. Praxis is honored to be working with companies that are dedicated to furthering the development of rare disease treatments.