A patient-driven registry for individuals and families affected by Maple Syrup Urine Disease (MSUD)
The MSUD Patient Registry, established in 2020, is a patient-driven registry for individuals and families affected by Maple Syrup Urine Disease (MSUD).
Sponsored by the MSUD Family Support Group and hosted by the Coordination of Rare Diseases at Sanford (CoRDS), the registry provides an opportunity for people with MSUD to share information about their health, treatments, and lived experiences. These data, driven by the patient voice, create a powerful resource that helps researchers, clinicians, regulators, and industry better understand MSUD, identify unmet needs, accelerate research, and guide development of future treatments.
Our Goals and Why Your Participation Matters
Every person living with MSUD has a unique and valuable story. By sharing yours, you can help us to:
- Better understand the long-term health, quality of life, and lived experiences of individuals with MSUD.
- Learn how symptoms, disease progression, and treatment experiences vary across individuals.
- Identify unmet needs, barriers to care, and the priorities of individuals and families.
- Advance research by supporting clinical trial design, developing evidence-based care-guidelines and treatment standards, and enabling therapeutic discovery.
- Improve care for today’s patients and future generations affected by MSUD.
Your information remains private and is de-identified prior to analysis.
Our Questionnaire requests the following information:
- Personal information (age, demographics, education, employment, and independent living)
- Diagnosis and genetic testing
- Health and medical history
- Nutrition, diet, exercise, and daily living
- Access to healthcare and insurance
- Quality of life and lived experiences with MSUD
How Families Can Participate
- Enroll online at https://msud-support.org/patient-registry/
- Sign consent forms (Participants 18 years and older; Parents/caregivers may enroll children under 18)
- Complete the CoRDS General Questionnaire and the MSUD Registry questionnaire.
- Update your information yearly, or whenever your health changes.
Hard copies, Arabic, and Spanish-language questionnaires are available by contacting Sanford CoRDS:
For questions about the MSUD Registry, contact:
Dr. Karen Dolins
Research Lead and Board Secretary
MSUD Family Support Group
research@msud-support.org