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.
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.
1. 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.
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. Enrollment open.
3. Montalcino Aortic Consortium (MAC)
An international research initiative led by Dianna Milewicz 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.
4. Clarity Registry
It is a research registry for children and young people with aortic disease, led by Shaine Morris.
It collects clinical and aortic imaging information over time and will be particularly relevant to children with ACTA2 variants, helping researchers better understand how genetic aortic disease develops and progresses.
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.
*This content is not intended as a substitute for professional medical advice, diagnosis, or treatment. Should you require medical advice, please contact a qualified medical professional who is familiar with Multisystemic Smooth Muscle Dysfunction Syndrome.
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