About $31 million in grants has been awarded by The National Institutes of Health in fiscal year 2019 to 20 teams in order to increase the percentage of treatments for rare diseases. Awardees include five new groups of scientists, clinicians, patients, families and patient advocates representing a wide range of rare diseases. An additional $7 million has been awarded to a separate data coordinating center to support these research efforts.

The five new consortia are:

• The Global Leukodystrophy Initiative Clinical Trials Network. Lead: Children’s Hospital of Philadelphia
• Congenital and Perinatal Infections Rare Diseases Clinical Research Consortium. Lead: University of Alabama at Birmingham
• Frontiers in Congenital Disorders of Glycosylation. Lead: Mayo Clinic, Rochester, Minnesota
• Hyperphenylalaninemia Disorders Consortium. Lead: Oregon Health and Science University, Portland
• Myasthenia Gravis Rare Disease Network. Lead: George Washington University, Washington, D.C.

“Over the years, RDCRN scientists have partnered with patients and advocates to develop new insights into the causes and progression of – and potential therapies for – rare diseases that were simply not receiving the attention they deserved,” said National Center for Advancing Translational Sciences (NCATS) Director Christopher Austin, M.D. “Their pioneering work in discerning underlying clinical differences and commonalities in hundreds of rare conditions has already changed the rare disease landscape in immeasurable ways.

There is a great need for new treatments for rare diseases. Of an estimated 6,500 to 7,000 known such conditions, only a fraction (approximately 5%) have U.S. Food and Drug Administration-approved treatments. But there is also increasing optimism. The number of these drugs has increased dramatically over the last decade or so, in part because of the Orphan Drug Act of 1983 as well as a growing realization that orphan drugs can be extremely profitable. Today, over 500 drugs are approved for rare diseases and some are among the most expensive in the world, on an annual basis, such as Zolgensma ($2B plus), Luxturna ($850,000) and Myalept (more than $750,000).

These latest NIH grants support consortia in the Rare Diseases Clinical Research Network (RDCRN), and aim to foster collaborative research among scientists to better understand how rare diseases progress and to develop improved approaches for diagnosis and treatment. The network is supported by multiple NIH Institutes and Centers and led by NCATS.

The RDCRN was established by Congress under the Rare Diseases Act in 2002. It has included more than 350 sites in the United States and more than 50 in 22 other countries. To date, these sites have produced 237 research protocols and included more than 56,000 participants in studies ranging from immune system disorders and rare cancers to heart and lung disorders, brain development diseases and more.

Each RDCRN member is a consortium of clinical and scientific experts and patient groups who study a group of rare diseases. Each consortium must study three or more diseases, partner with rare disease patient advocacy groups, provide rare disease research training to investigators and perform natural history studies that chart the course and progression of diseases. The primary focus of the RDCRN is clinical research, and the network does not generally support clinical care outside of research activities.

According to ORDR director Anne Pariser, M.D., an important focus of the latest group of awards is on clinical trial readiness. “Some of the RDCRN research groups have been working together for 10 or 15 years and have gathered important data and developed a good understanding of the diseases they study, in addition to new potential therapies. We’re emphasizing the need to be prepared to conduct clinical trials,” Pariser said.