What is the problem our project seeks to solve? Every year, nearly 1,000 infants in the United States are born with Duarte galactosemia (DG). Because of gaps in our knowledge, these infants face an uncertain future. DG may or may not be detected by the newborn screening, depending on the newborn’s state of residence. If infants are diagnosed, their parents may or may not be told to put them on soy formula because the sugar in breast milk or milk formula might make them sick or impact their development; no one knows and doctors disagree. As these children grow, parents relate concerns about developmental problems, but DG children remain ineligible for early intervention programs. In short, there is no standard of care for DG, leaving parents and clinicians to make decisions under uncertainty and many affected children to experience developmental deficits that might have been prevented.
What goals do we hope to achieve? By conducting this study, we hope to learn: (1) if school-age children with DG are at increased risk for developmental deficits, and (2) if a dietary restriction of milk in infancy or early childhood associates with developmental outcomes of school-age children with DG. We will make the results of our study freely and broadly accessible to families, clinicians, and public health policy makers to establish a shared foundation of knowledge about DG.
How will we achieve these goals? We will conduct a case-control observational study involving 600 children, all 6–12 years old, half with DG and half without, recruited from 12 different states. About half the children with DG will have consumed milk as babies, and half will not. We will collect historical and current diet information from parents using online surveys and conduct detailed direct testing of physical, social-emotional, communication (including auditory processing), and cognitive development of the children at local testing centers using established, standardized tests.
Why is this project important to patients and their families? This project is important to patients and their families because it will empower these families and their doctors to make evidence-based decisions to ensure their children have the best possible outcome.
How will patients and other stakeholder partners help make this project successful? Patient families and other stakeholder partners have already helped define our research questions and study design through conversations with the researchers and by participating in a focus group. Once the study is under way, these patent and stakeholder partners will provide regular oversight of study progress and guidance by serving on a DG Patient and Stakeholder Executive Committee, meeting regularly with the researchers, monitoring study participant feedback surveys, and engaging in or leading further focus groups. At the end of the project, families and other stakeholder partners will participate actively in the dissemination of results.