Surabhi Dangi-Garimella, Ph.D.

A rare disease, by the U.S. definition, is one that afflicts less than 200,000 individuals in the population at a given time. Compared to more widespread conditions such as heart disease and diabetes, ‘rare’ diseases do not receive as much attention and financial allocations from stakeholders, creating access issues for patients. 

Significant challenges exist with innovative R&D for rare diseases:

  • Dissimilar clinical conditions that are all grouped as ‘rare’ makes prioritizing a disease very difficult for drug sponsors, which might be why philanthropic funding may be needed to shepherd research for specific disease conditions. A report by IQVIA, commissioned by Roche, stated that globally, about 80% of funding for rare disease drug development is via fundraising, donations, or patient access programs, pointing to the need for innovative funding models to ensure sustenance in the space.
  • Low patient numbers makes rare disease drug development a challenging business proposition and a lower priority for drug sponsors.
  • Recruiting enough patients to conduct a clinical trial is challenging, which means the trials are conducted over a longer period and are very expensive 
  • Post-marketing period is vital, to make sure the efficacy in the real world matches the trial results

To push for progress in the rare disease drug development space, the U.S. government passed the Orphan Drug Act in 1983 that supports eligible drug sponsors with tax credits, PDUFA waiver, and marketing exclusivity for up to seven years. Within the Act is a provision for clinical investigators working on developing rare disease treatments to avail of funding via the Orphan Products Grant Program. Additionally, the FDA’s Rare Disease Cures Accelerator is designed to enable cooperation in the space and standardize platforms for rare disease characterization, including the patient perspective in outcome measurement, and facilitate clinical trial readiness. 

Despite these policies, the rare disease space continues to struggle.

Global Models for Rare Disease Development

There may be lessons to be learned from the rare disease programs being run by other countries.

Singapore’s Rare Disease Fund, for example, is a public-private partnership where the government matches every dollar of public donation at a 1:3 ratio, providing a significant boost to the fund’s impact. Eligible donors can avail of a 250% tax deduction. Key stakeholders supporting the government in this effort include private companies, including insurance providers; advocacy groups; National Fund Committees, and the general public. 

The Italian government has created various funding pathways based on a drug’s status for market authorization. While patient access to healthcare is covered through the National Health Service, physicians can request funding for orphan drugs pre-approval through a fund that is raised by private corporations. 

France has been a pioneer in the rare disease space among European nations and remains a leader to date. The national plan for rare diseases has launched several initiatives that have successfully driven research and innovation via public-private partnerships. Initiatives include:

  • Reference Centers for Rare Diseases located at multiple sites and made up of hospital-based teams with expertise in rare disease(s) that function as referral centers 
  • National Rare Disease Health Networks that include stakeholders from all areas: caregivers, patients, researchers, and manufacturers
  • Creation of the French National Database of Rare Diseases to develop an expansive knowledgebase on rare diseases and ability to conduct epidemiological studies in the population

Is the U.S. able to draw inspiration from some of these countries to successfully drive rare disease innovation?

Read more here about pharmaceutical innovation and healthcare policies that promote innovation.   


Surabhi Dangi-Garimella, Ph.D. is a biologist with academic research experience, who brings her skills and knowledge to the health care communications world. She provides writing and strategic support to non-profit groups via her consultancy, SDG AdvoHealth, LLC.