Participation in the MSUD Family Support Group Registry
The MSUD Family Support Group Registry is a patient-driven registry that allows people who are impacted by MSUD to share their health data and experience living with the condition. This research initiative has been identified by the MSUD Scientific Advisory Board as the #1 priority for the MSUD community. The MSUD Registry collects information on diagnosis, management, treatment practices, barriers to care, and quality of life, creating a roadmap for researchers in their quest to better understand the needs of our community and to develop new treatments and potential cures for this disease.
Information on long-term health and quality of life in individuals with MSUD is lacking. Your participation in this registry will provide a substantial gain to the scientific community. It may help to eliminate gaps in medical services provided and improve access to care while establishing best standards of practice for clinical management of all impacted by MSUD.
Because MSUD is a rare disease, affecting less than 1000 individuals in the U.S., development of new treatments will only be possible when academia, industry and advocacy groups work together. The Federal Drug Association (FDA) requires at least two clinical trials to be conducted to support approval of a new drug treatment. FDA realizes that this is very challenging for rare diseases and that it may be unethical to withhold treatment when randomizing patients into a placebo group, i.e., the group that does not receive the study medication, but instead a sugar pill. Consequently, they will allow natural history studies to be leveraged alongside single clinical trials to meet the requirements for approval. In 2022, more than half of the drugs were approved along this pathway creating new treatments for rare diseases. Researchers were able to compare the data collected from the natural history study to show that disease progression slowed in clinical trial participants who took the drug as compared to those who did not.
The MSUD registry can provide natural history data to support clinical trials as well as provide a better understanding of long-term outcomes and unmet medical needs that ultimately will lead to better patient care and treatments and improved quality of life. Your participation is essential.
In this interview Dr. Karen Dolins, Research Lead and Secretary of the MSUD Family Support Group Board of Directors, discusses MSUD, its impact on her family’s life and how the registry will enable the MSUD research effort to move forward.
To begin the registration process to participate in the MSUD Family Support Group registry, click on this button:
After completing the above registration process, you can enter the MSUD registry and enter or edit your data by clicking on this button:
The MSUD Family Support Group Registry
What We Have Learned From You
Have you participated in the MSUD Registry with Sanford CoRDS yet? If you are one of the 145 people who did, thank you! Here’s what we have learned so far from 117 responses:
- 87% of respondents have Classic MSUD
- 55% have been hospitalized 5 times or more
- 13% are seen by their metabolic team monthly or quarterly; 73% are seen semi-annually or annually
- 53% receive the results of routine blood tests within 48 hours
- 24% report having received a diagnosis of an anxiety disorder
- 41% report strict compliance with diet
- 23% report out of pocket expenses related to MSUD of more than $2500 annually
- 14% report receiving individual assistance at school
- 32% of adults report living with their parents