By Jonathan Springston, Editor, Relias Media

There are an estimated 7,000 to 10,000 known rare diseases, which affect approximately 25 million to 30 million Americans, many of whom are children, adolescents, and young adults. The results of a recently published paper indicate the nationwide costs to treat these patients annually is three to five times higher than those without a rare disease, rivaling prices associated with cancer and heart failure.

In a pilot study, researchers gathered information about International Classification of Diseases (ICD) codes to find patients with 14 rare diseases (e.g., sickle cell disease, muscular dystrophy, and eosinophilic esophagitis) in four healthcare systems. Investigators compared direct medical costs for these patients to costs to treat non-rare disease patients of similar age.

The authors calculated cost per patient year (PPPY) from health system information gathered from the National Center for Advancing Translational Sciences (NCATS; mostly Florida Medicaid information over five years) and Eversana (estimates from commercial and insurance payors over nearly 15 years). In NCATS, PPPY costs ranged from $4,859 to $18,994 for rare diseases patients vs. $2,211 for patients without a rare disease. In Eversana, PPPY costs ranged from $8,812 to $140,044 for rare diseases patients vs. $5,862 for patients without a rare disease. After extrapolating all the data, researchers estimated the total yearly direct medical costs for patients with rare diseases is approximately $400 billion.

“There needs to be greater public awareness of the large and growing medical footprint of rare diseases in society,” Anne Pariser, MD, director of the NCATS Office of Rare Diseases Research and senior study author, said in a statement. “Only about 10% of rare diseases have an FDA-approved therapy for their treatment. The findings underscore an urgent need for more research, and earlier and more accurate diagnoses of and interventions for these disorders.”

This week, the National Institutes of Health (NIH), the FDA, 10 pharmaceutical companies, and five non-profit organizations announced they are partnering to accelerate development of gene therapies to treat rare diseases. The Bespoke Gene Therapy Consortium will target regulatory requirements, develop standardized analytic tests, and conduct clinical trials.

“Most rare diseases are caused by a defect in a single gene that could potentially be targeted with a customized or ‘bespoke’ therapy that corrects or replaces the defective gene,” NIH Director Francis S. Collins, MD, PhD, said in a statement. “There are now significant opportunities to improve the complex development process for gene therapies that would accelerate scientific progress and, most importantly, provide benefit to patients by increasing the number of effective gene therapies.”

For more on this and related subjects, be sure to read the latest issues of Internal Medicine Alert and Medical Ethics Advisor.