Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community. Experts agree that registries are an important asset to professionals, patients and families, alike.
NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders. NBS Connect is a web-based, self-report patient registry for people affected by certain disorders included in the newborn screening panel.
NBS-MSUD Connect will help those with MSUD by:
- Improving quality of care: By collecting data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life, NBS-MSUD Connect aims to eliminate gaps in service and improve access to care while establishing best standards of practice for clinical management of MSUD.
- Contributing to research: Rare disease research and drug development can be difficult, expensive, and time consuming. Well-organized registries attract the attention of the research community by reducing or eliminating some of these barriers. For example, registries can expedite the identification of patients who may be interested and/or eligible for participation in clinical trials so that effective drugs can be studied more efficiently. Natural history data collected through registries can contribute to the scientific platform upon which drug development and other research can be built. By creating and maintaining an NBS-MSUD Connect profile, registrants support the development of genotype-phenotype studies, research cohorts, protocols for clinical studies and much more.
- Prioritizing the patient/family perspective: When participants in NBS-MSUD Connect share their experiences, they help research funding agencies, pharmaceutical companies, regulatory agencies, and patient organizations learn how to best serve the MSUD community and focus on the issues that are important to patients and families.
NBS Connect is also designed to serve as an internetbased support group that connects patients and provides information and tools for living with and managing NBS diagnosed conditions. NBS-MSUD Connect can help registrants:
- Become empowered to make more informed healthcare decisions: NBS-MSUD Connect registrants have access to a variety of resources including education materials, information on the latest research/clinical trials, recipes, interactive health tracking systems, “Ask an Expert” tools, and more.
- Connect: NBS-MSUD Connect registrants can get to know other patients and families who are living with MSUD via our active social media platforms (Facebook and Twitter). This allows participants to collaborate, share, and learn from one another.
- Learn about exciting, new initiatives: The NBS Connect registry team is constantly searching for ways to better serve the patients and families participating in the registry. Most recently, NBS Connect is exploring avenues to offer quick, accurate and affordable genetic testing to all NBS Connect participants. This testing is essential to further research of MSUD as it can help advance understanding of disease progression and allow for the development of treatments that target an underlying genetic cause. Stay tuned for more information on this and other exciting new projects!
To ensure that the MSUD community experiences all the potential benefits that rare disease registries can offer, NBS-MSUD Connect must continue to grow with complete and up-to-date information. To this end, we encourage all adult patients and parents/ guardians of individuals affected with MSUD to visit the website at nbsconnect.org and register or update their participant profiles.
Please contact the registry team if you have any questions about NBS-MSUD Connect. We are also available to provide assistance in creating or updating an account.
HRSA Supported Partnership — Principal Investigator: Dr. Rani Singh, PhD, RD, LD; Grant #UH7MC30772