Expanding Horizons: How 2 Organizations Are Tackling Rare Disease Treatment Gaps

While rare diseases are defined as conditions affecting fewer than 200,000 individuals, the shortage of rare disease treatments in the United States is a significant and pressing issue that affects countless individuals and their families who are grappling with often life-threatening medical conditions.¹ Rare diseases collectively impact millions of Americans, yet the development and availability of treatments for these conditions lag far behind those for more common diseases. The core challenges in addressing this issue include limited financial incentives for pharmaceutical companies to invest in the development of rare disease treatments, high research and development costs, and complex regulatory hurdles.

The Orphan Drug Act was passed in 1983 to incentivize the development of rare disease treatments, but there is still a clear shortage of therapies that are available and effective at helping those who need them 40 years later.²

The American Journal of Managed Care® (AJMC®) spoke to leaders of 2 organizations working to combat this shortage of rare disease treatments:

• David Fajgenbaum, MD, MBA, MSc, co-founder of Every Cure and physician scientist at the University of Pennsylvania
• Geri Landman, MD, MPH, cofounder and chair of Moonshots for Unicorns, pediatrician at Palo Alto Foundation Medical Group

What sets these individuals apart is their own connection to the rare disease space.

In 2010, Fajgenbaum began his battle with Castleman disease while a third year medical student. His near-death experience led to a successful treatment discovery utilizing a 25-year-old drug that had never been used to treat Castleman disease, enabling his over 8-year remission. He has since achieved personal milestones, including marriage and academic roles, while extending his strategy to help others by accelerating drug repurposing for various diseases like Castleman, angiosarcoma, and COVID-19.

For the Landman family, their daughter Lucy's love for water and family vacations took a worrying turn when she displayed unusual symptoms, including fatigue and diminished babbling. Extensive medical tests could not explain her condition, and it took a month for her to receive a rare genetic diagnosis related to her PGAP3 gene, impacting cell communication. Unfortunately, there is currently no cure or treatment, and the prognosis suggests she may face challenges such as low muscle tone, intellectual disability, and seizures, which her family finds difficult to accept given her happy and curious disposition. The Landman family has since launched the 501(c)3 non-profit Moonshots for Unicorns to help bring attention to rare genetic disorders and fund research for potential treatments.

In this video, Fajgenbaum delves into Every Cure's mission, emphasizing their application of artificial intelligence to find hidden cures among existing drugs. He also elaborates on their systematic approach, where they evaluate a wide range of drugs and diseases to identify the most promising drug-disease combinations suitable for clinical trials. In addition, Landman speaks about her daughter's rare condition, PGAP3, touching on the lack of treatment options they received and the family's proactive response. Landman also details 2 distinct strategies: drug repurposing involving the testing of existing medications on yeast and patient cells, and gene therapy development through the creation of a virus to introduce the missing gene.

To learn more about these organizations’ work on rare disease treatments, visit www.everycure.org and www.moonshotsforunicorns.org

References

1. Rare Diseases at FDA. FDA. Updated December 13, 2022. Accessed October 25, 2023. https://www.fda.gov/patients/rare-diseases-fda
2. Public Policy Positions. National Organization for Rare Disorders. Accessed October 25, 2023. https://rarediseases.org/driving-policy/public-policy-positions/