Thought Leadership

Celebrating 40 Years of the Orphan Drug Act: Renewing a Commitment to Advancing Innovation for Rare Disease Patients

By Dr. Brian Roberts, Chief Medical Officer, Rezolute Bio, a member company of the Rare Disease Company Coalition

We are in a pivotal era of rare disease innovation that originated 40 years ago with the passage of the Orphan Drug Act (ODA). As a practicing endocrinologist, researcher and drug developer with considerable experience in the rare disease area, it is humbling for me to witness the many research institutes, biotech companies, policy organizations and patient advocacy groups that are unwavering in their commitment to those impacted by rare illnesses. I stand with them in their commitment to creating novel, life-changing treatments for rare and ultra-rare diseases and helping to increase access of these therapies to patients living with these conditions.

While impressive progress has been made in the last 40 years, over 10,000 rare diseases still impact an estimated 25-30 million Americans, and at least 95% of them still lack an FDA-approved therapy. More important than the numbers are the people these diseases impact daily. Rare diseases inflict a tremendous burden on patients, their families and caregivers, often making the simplest daily tasks incredibly challenging. Thanks to the ODA and organizations like the Rare Disease Company Coalition (RDCC) that advocate for changes in health policy and incentives for significant scientific advancements, important discoveries continue to be made that positively impact patients and bring new therapies for rare disease.  

A disease like congenital hyperinsulinism (HI), a serious, rare pediatric disease, affecting 1:25,000 – 50,000 children born in the U.S., is just one example of a rare disease with a high unmet need for new therapies. HI presents most commonly in the first month of life, causing dangerously low blood glucose and placing developing brains at significant risk for irreversible damage. There are no regulatory-approved medical therapies for all forms of HI. Currently available therapies are repurposed drugs that were not developed for HI or a pediatric population, have serious side effects, and are inadequate in controlling hypoglycemia for a majority of HI patients. When currently available medical therapies fail, families must choose between intensive medical/feeding regimens or a near-total pancreatectomy. New potential therapies for rare conditions like HI are now in development and are the direct result of the ODA. More policies and regulations that encourage research and development of treatments for the rare disease community are still very much needed. 

Working in the rare disease space and being able to develop meaningful drug therapies is incredibly gratifying. My colleagues and I are motivated by the possibility of helping improve the lives of very specific groups of patients by providing better therapies to patients and families, who have suboptimal treatment options. That’s a great feeling. The orphan drug and rare disease revolution may have its origins in the ODA, but it’s driven by the passion and innovative thinking of physicians, scientists and the broader biotech community who are pioneering breakthrough innovations in small, entrepreneurial companies. At Rezolute, we are one such company, committed to developing bold medicines that transform the lives of patients. We are advancing RZ358 as a novel therapy for those living with HI thanks to the dedication of our team members, the close partnerships we have formed within the rare disease community and organizations such as RDCC.

While the ODA was the original impetus in launching the meteoric rise of orphan drug development, a renewed sense of urgency is now underway. Rare disease biotech companies  need continued substantial incentives to support continued research and development of orphan drugs for conditions like HI, and so many more that affect millions globally. Like many biotech companies, our ability to bring forward new therapeutics is mainly dependent on successful clinical trials. While Rezolute was able to successfully complete our recent pediatric rare disease trial, in spite of challenging circumstances during the pandemic, many clinical trials were significantly impacted or even halted. Trials became even more challenging to complete, given the greater health concerns of rare disease patients and numerous logistical roadblocks. Actions to extend exclusivity for orphan drugs, whose development was disrupted during the pandemic, is just one way to incentivize companies to complete these trials and bring new treatments and cures to patients battling rare diseases.

I’m hopeful for the future of rare and orphan drug disease development and call on Congress for its full support of the ODA so the biotech community can continue working to transform the lives of patients and their families. 

Learn more about the Orphan Drug Act and the RDCC’s commitment to furthering innovation for a community that long deserves life-changing treatments.