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Department of Health and Human Services, National Institutes of Health’s Office of Rare Diseases, the National Institute of Neurological Disorders and Stroke, FDA Center for Drug Evaluation and Research

Concurrent with the workshop on Newborn Screening, this meeting took place in an adjacent room. The purpose of the meeting was to review and discuss the difficulties in translating preclinical studies in animals to clinical trials in humans.

Individuals with IEM have a range of functioning, which may vary with the specific mutation. The neurological effects of disease over time are virtually unknown. The presenters noted that researching inborn errors of metabolism (IEM) is made particularly challenging by their rarity, ethical issues in studying children, and the fact that it is extremely difficult to study the impact of disease and its treatment on the brain. What is clear is that IEM, including MSUD, are diseases which affect the nervous system. As such, the individual may not be functioning optimally even when well controlled.

The opening speaker noted that while attempts to treat IEM with stem cell transplant or enzyme enhancement have been unsatisfactory to date, advances in biology and technical tools used to manipulate cells have occurred.

Lay organizations such as ours are invaluable to scientists as parents and patients teach the doctors, conduct fundraising to support research, and act as advocates to legislators. The speaker noted that organizations which raise money for research must have a scientific advisory board to review grant applications. An independent assessment is needed to evaluate the scientific credibility of the proposed research and to balance the risk with potential benefit.

The room was filled with physicians, researchers, public health officials, psychologists, genetic counselors, representatives of support groups, pharmacologists, and more. As I observed all these individuals, organizations, and medical institutions speak of the need to collaborate, I felt a real hope that a breakthrough will occur.

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