Addressing Challenges in Rare Disease Drug Development - Together

The encouraging news is that the rare diseases community appears stronger than ever, and there has been no better time in history to build on existing momentum and resources.

Stephanie Fischer
Stephanie FischerJanuary 27, 2014

Addressing Challenges in Rare Disease Drug Development - Together.

Groft_portrait_05123Dr. Richard Moscicki, Deputy Center Director for Science Operations at the Center for Drug Evaluation and Research at the Food and Drug Administration (FDA), noted in his remarks  at the FDA public workshop on Complex Issues in Developing Drug and Biological Products for Rare Diseases held earlier this month that more than a third of the novel drugs approved in CY13 treat rare disease.  With 450 therapies in the pipeline, as shown in PhRMA’s report on Medicines in Development for Rare Diseases, we are optimistic that this trend will continue. 

One of the themes of the FDA workshop was the need for closer collaboration between the many stakeholders in the development of therapies for rare disease.  Together, the biopharmaceutical industry, academia, government (particularly FDA and National Institutes of Health) and patient advocacy organizations can make more progress in the quest for new treatments.

In the next few weeks, we will feature guest blogposts from thought leaders in the rare disease community offering their perspective on how we can address those complex issues in developing therapies for rare disease – together.  

Our first contribution comes from Dr. Stephen Groft, Director of the Office of Rare Diseases Research of the National Center for Advancing Translational Sciences at the National Institutes of Health (NIH).  Last year, Dr. Groft received the Henri Termeer Lifetime Achievement Award from Global Genes for his thirty year commitment to rare disease research.


New Hope for Rare Disease Research and Treatments

Growing up in the 1950s, I had friends and neighbors who were stricken with uncommon diseases with few or no effective treatments readily available. Cystic fibrosis, leukemia, brain tumors, Marfan syndrome, muscular dystrophy, cerebral palsy, polio, Multiple Sclerosis and Parkinson’s disease were just some that I witnessed first-hand.

As I embarked on what would be a lifetime of commitment to advancing research on the approximately 6,500 rare diseases and conditions affecting millions of people, there still were relatively few therapeutics on the market. Recognizing the need for a strong patient advocacy voice led to the formation of what is now known as the National Organization for Rare Disorders (NORD). Individual organizations instrumental in passing the Orphan Drug Act of 1983 into law were responsible for the establishment of NORD. The Act, which provides for a number of incentives to expand research into developing new preventions, treatments and cures for rare diseases, has helped lead to more than 450 product approvals and treatments in the past 30 years.

While there has been amazing progress, the road ahead is still at times daunting as we strive to find better, quicker and less expensive methods to translate research discoveries into new interventions that meet safety and efficacy requirements. The encouraging news is that the rare diseases community appears stronger than ever, and there has been no better time in history to build on existing momentum and resources. For example, the number of public-private partnerships continues to increase as new business models for rare disease drug development surface. Collaborative opportunities have expanded to include representation not only from academia and patient advocacy groups, but also from the pharmaceutical, biotechnology and diagnostic industries; philanthropic foundations; and research and regulatory government agencies.

Many National Institutes of Health (NIH) Institutes and Centers (ICs), including the National Center for Advancing Translational Sciences (NCATS), are deeply committed to fostering the collaborative efforts of multidisciplinary research teams and new approaches to drug discovery and development for rare diseases. The study of rare diseases enables NCATS to both address enormous unmet medical needs and can lead to an understanding of more common diseases. Through NCATS’ Therapeutics for Rare and Neglected Diseases (TRND) program,  researchers have the opportunity to work with TRND experts and use NCATS pre-clinical scientific capabilities and services in efforts to move promising small molecules and biologics into clinical testing. Another valuable resource for those who have hit roadblocks and need additional expertise is the Bridging Interventional Development Gaps (BrIDGs) program, which provides eligible scientists with  access to contractor services, such as toxicology studies, for pre-clinical therapeutic development.

In addition, NCATS’ Office of Rare Diseases Research co-funds some awards for the NIH Bench-to-Bedside (B2B) Program, which helps to address barriers in the translational research process, such as the traditional silos between basic and clinical researchers in biomedical research. While previously NIH's ICs funded research on individual rare diseases in their respective disease-type or organ domains, the Rare Diseases Clinical Research Network (RDRCN) helps support broader and collaborative clinical trials and information sharing. Through these and similar initiatives, the rare diseases community collectively now has the ability to attract a large number of research investigators with a particular interest in rare diseases.

Finally, we also now better understand how to conduct the most effective rare diseases clinical trials, and I remain grateful that so many patients continue to be willing partners in these studies. The community’s dedication and commitment, combined with the promises of gene therapy, regenerative medicine, refined antibodies, small molecules, and repurposing of existing products, provides a strong foundation for further and monumental achievements. 

Stephen C. Groft, Pharm. D.
Director, Office of Rare Diseases Research
National Center for Advancing Translational Sciences
National Institutes of Health

Steve Groft, who has devoted more than 30 years to rare diseases research and 40 years to public service, will retire from the NIH on February 8, 2014.

Read more blog posts on rare diseases.

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