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Why It’s an Exciting Time in Rare Disease Drug Development

Drug development-rare disease drug development-equitable
Drug development-rare disease drug development-equitable

Experts from the World Orphan Drug Congress USA 2022 discuss the factors enabling better research and development of rare disease drugs, and what can be done to improve the field in the future. 


Janet Woodcock, M.D.

Principal Deputy Commissioner, U.S. Food and Drug Administration

What is exciting about the future of rare disease drug development? 

The new tools that are on the horizon — gene therapies, cellular therapies, gene editing technologies — will let us attack the causes of many rare diseases in ways we couldn’t even imagine previously. These tools could help us treat the causes of diseases rather than just reducing the symptoms, bringing people longer and healthier lives. 

Why does it take more than 6 years for the average rare disease to be diagnosed? 

Medicine still relies a lot on the “see one, do one, teach one” paradigm. If you’ve never seen one diagnosed, you probably won’t recognize one when you do see it. We need to use more information technology in diagnosis, not just rely on standard diagnostics — they often don’t reveal the rare disorder. 

How can we make rare disease drug development more equitable? 

Most drug development is done by for-profit companies. They have to stay in business, so they need to have successful programs and get a return on investment. The FDA runs incentive programs like Orphan Drug exclusivity to sweeten the pot, and we also give out grants to help with development costs.  

Patient groups that help stake development costs have been successful in some diseases. The FDA works with patient groups to develop knowledge about the disease, its progression, and the kinds of problems it causes, and this can give developers a head start on their programs, incentivize investment, and potentially create more competition in the field. 


Peter Saltonstall

President and CEO, NORD 

What is the most important medical advancement in rare diseases in the past 5 years? 

In 2012, the FDA set up the Patient-Focused Drug Development (PFDD) initiative to obtain and integrate the patient perspective on rare diseases, treatments, and outcomes. While not explicitly a medical advancement, I believe the most important display of growth in the rare disease field as of late has been the re-emphasis on the patient — accessing their natural history data, sharing and learning their stories, and engaging their participation in PFDDs, clinical trials, and drug development.  

What we do is for the individuals and families across the country, and so medical advances must continue to come in partnership with the rare disease community. 

What do you think is most exciting about the future of rare disease drug development? 

Telehealth and improving patient access to care. The field of digital health has changed rapidly as of late, and we must ride that wave to combat the barriers that have arisen, including bridging the digital divide and providing credible and high-quality patient data.  

At NORD, we believe increasing the use and acceptance of digital tools, telehealth, and technologies can dramatically alter how patients access care, how clinical trials are conducted, how rare disease drugs are developed, and how rare diseases are researched and treated. These advances and adjustments made during the pandemic should become permanent fixtures in our country. 

Why do rare diseases take six years on average to diagnose? How can this be improved? 

Every family’s rare story is unique. There are costs associated with every step of the long diagnostic odyssey, from accessing resources for testing, to finding a specialist, to recognizing and considering a rare disease, to receiving authorization for insurance coverage for testing. It is often symptoms that are being treated initially, as opposed to the underlying cause.  

As a system, we must continue to strengthen the patient-professional relationship, train the next generation of medical professionals to recognize and test for rare diseases, and create networks for sharing expertise, such as NORD’s Rare Disease Centers of Excellence Program

What challenges do we need to overcome to make rare disease drug development more equitable? 

Rare disease drug development poses unique challenges, such as small, heterogeneous patient populations, and limited or non-existent natural history data or a lack of diversity in clinical trials. Standardizing and integrating patient data and voice will go a long way toward overcoming these longstanding barriers in rare disease drug development.  

Training that focuses on these challenges can also help reviewers understand pitfalls, use regulatory flexibility as appropriate, and foster confidence in their ability to review rare disease products.  


Suneet Varma

Global President, Rare Disease, Pfizer

What is the most important medical advancement in rare diseases in the past 5 years? 

With more than 7,000 known rare diseases, this is an area of immense complexity. Recent breakthroughs have allowed for better understanding of the underlying drivers of many rare diseases, 80 percent of which have genetic origins. This has led to the development of highly targeted investigational treatments with potential to provide a transformational clinical benefit, one example being gene therapy.  

For patients with rare genetic diseases that have no or very limited treatment options, like Duchenne muscular dystrophy — a devastating genetic disorder that primarily impacts young boys — there is hope that gene therapy, if approved, may significantly impact the trajectory of disease progression. 

What do you think is most exciting about the future of rare disease drug development? 

Currently, only 5 percent of rare diseases have an FDA-approved treatment. Thankfully, we are seeing a tremendous increase in the number of clinical trials that seek to address this significant unmet need. This is coupled with an unprecedented opportunity to leverage lessons learned from the COVID-19 pandemic to expedite drug development without compromising safety.  

I’m excited about the potential to apply the same sense of urgency to rare disease drug development; from research and clinical development, to regulatory reviews and approvals, to manufacturing, and ultimately, delivering breakthroughs to patients.  

Why do rare diseases take six years on average to diagnose? How can this be improved? 

Rare diseases often go undiagnosed or misdiagnosed because they are rare. Patients, families, and healthcare providers have limited awareness and understanding of these diseases. Many patients spend years cycling through the healthcare system — in fact, on average it takes about six to eight years for a rare disease patient to receive a correct diagnosis.  

Pfizer is working with a range of stakeholders to tackle this issue by forging collaborations that educate on the signs and symptoms of rare diseases, embracing emerging technologies like artificial intelligence that can help identify and diagnose patients sooner, and supporting newborn screening programs. 

What challenges do we need to overcome to make rare disease drug development more equitable? 

Clinical trials must be representative of those most impacted by a disease, and inclusive of communities that have, unfortunately, historically been underserved. This is particularly important for rare diseases, many of which disproportionately impact communities of color. Progress has been made, but much more work is needed.  

Pfizer is focused on addressing these inequities in multiple ways, including working with community partners to raise awareness and remove barriers to trial participation, choosing trial site locations in the communities we are trying to reach, and providing culturally relevant materials in multiple languages based on principles of health literacy. 

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