A patient registry is a secure, confidential database that collects health information directly from individuals or families affected by a particular condition like Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) to support medical research and care improvements. Filling out a survey is the common way to contribute to a registry.

Registries are especially important for rare diseases where each patient’s experience adds valuable knowledge to the medical field.

MSMDS is an ultra-rare genetic disease linked to mutations in the ACTA2 and other genes, often causing:

• Pediatric strokes
• Aortic dissections in infancy
• Bladder, gastrointestinal, and other systemic issues 

With so few known patients worldwide, researchers and doctors need reliable, collective data to:

• Identify common symptoms and progression
• Support clinical guidelines
• Prepare for future gene therapy and clinical trials
• Advocate for funding and attention to this underserved community

The ACTA2 Alliance Registry, powered by Sanford CORDS, is our most powerful tool to drive research forward.

Every person diagnosed with MSMDS can join the registry, no matter the age or where in the world they live. MSMDS is mainly caused by mutations in the ACTA2 gene, but there are other genes that can also mutate to cause MSMDS (ex.MYLK,MYH11). Despite the affected gene or variant, all people diagnosed with MSMDS are welcome and needed in the patient registry.

To proceed with the registration, visit this link and complete the steps on the screen. You will be asked to fill out a short demographic survey created at Sanford CoRDS, with vital data that will amplify the information you will provide in the MSMDS specific disease questionnaire. This second survey, created by ACTA2 Alliance in collaboration with doctors and researchers from our Scientific and Medical Advisory Board, will help capture insightful data that will help us advance in research and care. The Sanford registry has IRB (Institutional Review Board) approval, which means it has been given approval by a governing body of scientists to be ethical and safe for human participation. This is the highest standard given for a study.

The MSMDS questionnaire takes around 25 minutes to complete, and you can stop and go back to edit as many times as you need. For any questions or doubts, you can reach out to ACTA2 Alliance by email (msmds@acta2alliance.org). A member of the team will help you as soon as possible. 

Your information is used strictly for research and advocacy purposes. Researchers studying MSMDS and ACTA2-related diseases will be able to request de-identified data (data with personal identifiers removed) to study trends, create clinical guidelines, and advance treatments.

Should a researcher be interested in doing a clinical trial or study about your specific condition, CoRDS will provide you with the researcher's contact information.

Joining the registry is one of the most direct ways to impact future care for MSMDS affected people. By contributing your story:

• You amplify the voice of the MSMDS community
• You accelerate research toward better diagnostics and treatments
• You stay informed about new research or trials
• You help create data-driven policies for rare disease funding and support

Only approved researchers and registry staff at Sanford CORDS have access to the data. Researchers outside Sanford CORDS must apply to CORDS to gain access to the de-identified data. Your privacy is protected by law, and you choose how your data is shared.

Yes. At any time, you can:

• Update your information
• Withdraw from the registry
• Ask to see what data is stored

Participation is completely voluntary and under your control.

Sanford CORDS (Coordination of Rare Diseases at Sanford) was selected because of its long-standing commitment to rare disease research and patient privacy (it has supported over 200 registries). The platform is HIPAA-compliant, IRB-approved and widely trusted by dozens of rare disease communities, and built for long-term data protection.

In the unlikely event that Sanford CORDS can no longer host the registry, your data will be transferred (only with your consent) to another trusted research partner. Our commitment is to protect the data shared in the registry for the long term.

Yes. At ACTA2 Alliance we encourage our community to share their data with any registry seeking participation from MSMDS patients. The MSMDS patient registry hosted by Sanford CoRDS will be the first and only database solely centered in capturing relevant data from people affected by MSMDS. 

Your data will always be owned by you, and ACTA2 Alliance will pursue and ensure that the information is shared in the future with doctors and researchers who will help our community move forward faster.