Participate in MSMDS Research
The path toward effective treatments for MSMDS and ACTA2 conditions depends not only on laboratory work, it also relies on the collaboration of families.
In diseases this rare,
every data point, every medical history, and every study participant moves the entire community forward.
Ways to participate
- ACTA2 & MSMDS Patient Registries
The ACTA2 Alliance Patient Registry collects medical information from individuals with MSMDS or ACTA2 mutations to support research and improve understanding of the disease.
Participation can be done remotely and contributes to building a global knowledge base.
The Montalcino Aortic Consortium (MAC) is an international research initiative focused on improving understanding of genetic aortic diseases, including those related to ACTA2.
Participation contributes to a global effort to advance precision medicine for heritable thoracic aortic disease.
2. Natural History Study
An international study led by Patricia Musolino at Massachusetts General Hospital that follows individuals with ACTA2 mutations over time to better understand how the condition evolves. Enrolment open.
Why participation matters
In ultra-rare diseases like MSMDS and ACTA2 conditions, research moves forward when families take part.
By sharing medical data or participating in studies, individuals help improve understanding, guide clinical care, and support the development of future treatments.
Not everyone can participate, and that’s okay.
There are many ways to support research.
Even if you are not able to join a study or registry, your support can still help move the science forward.
