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Mark L. Batshaw, MD, Physician-in-Chief and Chief Academic Officer for Children's National, Says Drug Development for Rare Diseases in Children at a "Tipping Point"

Washington, DC - More clinical trials, increased patient advocacy, and collective work in a multi-disciplinary consortia of healthcare organizations, are becoming increasingly important “to move forward” rare disease research for children, says Mark L. Batshaw, MD, Physician-in-Chief and Chief Academic Officer for Children’s National Health System.

The development and testing of new drugs for rare diseases is “at a tipping point where the infusion of increased funding from governmental agencies, foundations, philanthropy, and the pharmaceutical industry can have a transformational effect on these disorders that up to now have had few drugs available for them,” Dr. Batshaw says.

Although individually uncommon, there are more than 7,300 rare diseases estimated to affect 18 to 30 million Americans.  About 80 percent of rare diseases have a genetic origin, and about half affect children.

“It is important to move forward with the development of novel treatment approaches that can begin in childhood,” wrote Batshaw, in a recent issue of the Journal of the American Medical Association, in an article entitled, “Research Into Rare Diseases of Childhood.”  Dr. Batshaw is also professor and chairman of the Department of Pediatrics and Associate Dean of Academic Affairs at George Washington University School of Medicine and Health Sciences.

The article stated that development of multi-pronged research consortia to study rare diseases “is essential for rapid advancement in clinical research because single institutions do not have a sufficiently large patient population of a specific rare disorder to perform clinical trials efficiently and effectively.” A consortium is important because “no institution, no matter how large, is capable of doing a study by itself because of the small number of affected individuals,” Dr. Batshaw says.

Children’s National is engaged in one of the more prominent and established rare diseases clinical research consortia, known as the Urea Cycle Disorders Consortium (UCDC) that has resulted in significant involvement in clinical trials, patient advocacy and coordination with other facilities, with a rare disease focus.  The consortium, which includes universities and other academic healthcare organizations, has been in existence for 10 years.

“Children’s National has one of its major focuses on rare diseases; we are considered the international home for urea cycle disorders, leukodystrophies, muscular dystrophy and other neuromotor disorders,” Dr. Batshaw says.

In urea cycle disorders, children with a complete block in one of the eight urea cycle-related enzymes commonly present in the firsts week of life with elevated ammonia levels, and coma. Historically, fewer than half of neonatal onset cases have survived to childhood, and those who do survive commonly sustain severe neurocognitive deficits.

"With the growth of knowledge in this field and the unique position that Children’s National holds,  we have become a leader in both research and clinical care for the rare-disease community. The lessons we learn from rare diseases almost always help us care for the rest of our patient population as well,” says Marshall L. Summar, MD, Division Chief, Genetics and Metabolism, Center for Genetic Medicine Research (CGMR) at Children’s National.  Dr. Summar was recently appointed to the Patient-Centered Outcome Research Institute (PCORI)’s Advisory Panel on Rare Disease. The panel will advise PCORI, a government research and funding institution, on its funding priorities in the area of rare disease and also engage with the rare disease research community.

In urea cycle disorders previous longitudinal research studies and clinical trials have involved fewer than 50 patients, whereas the UCDC is currently following more than 600 people in 14 sites in the US, Canada and Europe, according to Dr. Batshaw.

“This has permitted investigations on the overall morbidity, mortality and developmental outcomes of individuals with urea cycle disorders that could not have been accomplished previously,” Dr. Batshaw wrote. The acceleration of clinical trials studying rare diseases over the past three decades has occurred largely because of the Orphan Drug Act, which was enacted in 1983 as a result of patient advocacy groups working with Congress.

The Food and Drug Administration has become more innovative and open to novel study designs for rare disease research, and has opened the door for drug approvals in other areas of care, according to Dr. Batshaw.

Patient advocacy and parent involvement for children with rare diseases also is expanding, Batshaw says.  As an example, the National Urea Cycles Disorders Foundation has an annual meeting in which families are given updates by UCDC investigators about “what is happening in research and clinically, and investigators listen to the families to understand what is important to them in finding answers,” Dr. Batshaw says.

The National Institute of Health has provided significant support for clinical research studying rare diseases, including the development of the Rare Diseases Clinical Research Network (RDCRN). The initiative is supported and administrated by the NIH Office of Rare Diseases Research in the National Center for Advancing Translational Science with participation of eight other NIH Centers and Institutes.

The purpose of the program is to promote collaborative clinical research in rare diseases, including longitudinal studies, clinical studies and clinical trials. Seventeen consortia presently comprise the RDCRN, including 210 sites performing clinical research and natural history studies.

Contact: Emily Hartman or Joe Cantlupe at 202-476-4500.

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