ACTA2 Alliance UK Commits £10,000 to International MSMDS Research Study

RESEARCH UPDATE | NOVEMBER 2026

Three organisations. Three countries. One shared mission: advancing research into MSMDS.

We are incredibly proud to announce that ACTA2 Alliance UK has committed £10,000 towards the Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) Natural History Study, led by Dr Patricia Musolino and her team at Massachusetts General Hospital in Boston, USA.

This commitment forms part of an exciting international collaboration between three organisations dedicated to improving the lives of those affected by ACTA2-related MSMDS:

• ACTA2 Alliance (USA): $100,000

• Qué Pupilas Más Grandes Tienes (Spain): €30,000

• ACTA2 Alliance UK: £10,000

  
  

Together, we are helping to expand access to vital research for families affected by this ultra-rare genetic condition. For a condition affecting so few people worldwide, international collaboration isn't just important, it's essential.

What is the MSMDS Natural History Study?

A natural history study is a type of medical research that follows people living with a particular condition over time to better understand how it develops, progresses and affects different parts of the body.

Unlike a clinical trial, which tests a potential treatment, a natural history study focuses on understanding the condition itself.

MSMDS is caused by certain variants in the ACTA2 gene, which affects the function of smooth muscle cells throughout the body. These cells play a crucial role in blood vessels and organs, meaning the condition can affect multiple systems, including the heart, brain, lungs, bladder and gastrointestinal tract.

Because MSMDS is so rare, there is still a great deal researchers do not fully understand about how the condition changes over a person's lifetime.

The Natural History Study in Boston aims to change that.

By following individuals with MSMDS through detailed medical assessments and collecting clinical information over time, researchers hope to build a clearer picture of the condition.

This includes understanding:

• Disease progression: How MSMDS develops and changes as children grow and individuals get older.

• Cardiovascular health: How the condition affects the heart, aorta and wider blood vessels.

• Neurological health: How changes in the blood vessels supplying the brain may develop over time.

• Other organ systems: How MSMDS affects different parts of the body and how these complications may vary between individuals.

• Patterns and differences: Why some individuals experience certain complications while others do not.

• Future treatments: Which measurements and clinical outcomes could help researchers evaluate potential therapies.

For families living with MSMDS, this knowledge could be invaluable.

Why is this research so important?

One of the biggest challenges in developing treatments for ultra-rare conditions is the lack of available patient data.

Before researchers can confidently test whether a new treatment is working, they need to understand what would typically happen without that treatment.

This is where natural history research becomes so important.

By gathering consistent medical information over several years, researchers can establish a clearer understanding of how MSMDS progresses and identify meaningful ways to measure changes in patients' health.

This information could help inform the design of future clinical trials, support the assessment of potential treatments and improve clinical understanding of the condition.

As research into potential treatments for ACTA2-related MSMDS advances, building this foundation of knowledge is more important than ever.

The Natural History Study does not itself test a new treatment, but it could play a crucial role in making future treatment trials possible.

Helping more families participate

Our combined funding is intended to help expand participation in the study, allowing more families affected by MSMDS to contribute to this important research.

With an ultra-rare condition, every individual matters.

Every medical assessment, every clinical observation and every additional patient can help researchers build a more complete picture of MSMDS.

The more information researchers can gather, the better equipped they may be to understand the condition and prepare for future treatment research.

We also recognise that taking part in international research can be a significant commitment for families, particularly when it involves travelling abroad for specialist assessments.

By working together internationally, we hope to help create more opportunities for families to contribute to research that could ultimately benefit the entire MSMDS community.

A milestone for ACTA2 Alliance UK

ACTA2 Alliance UK was founded in April 2026 following our daughter Lily's diagnosis of MSMDS.

What began as one family's determination to raise awareness of an incredibly rare condition has quickly grown into a community of families, supporters, researchers and fundraisers who share a common goal.

In just a few months, we have been overwhelmed by the generosity of everyone who has supported our fundraising efforts.

From community events and sponsored challenges to individual donations and our nationwide Move-a-thon, every contribution has helped us take meaningful steps towards funding research.

Our £10,000 commitment to the Natural History Study represents another important milestone for our charity, alongside our ongoing support for pioneering UK research exploring potential treatments for ACTA2-related conditions.

Our ambition has always been to do more than raise awareness. We want to help turn awareness into action, and action into meaningful progress for patients and families.

Stronger together: a global effort

We are delighted to be working alongside ACTA2 Alliance US and Qué Pupilas Más Grandes Tienes in Spain.

Although we are based in different countries, we are united by the same determination: to create a better future for those living with MSMDS.

This collaboration demonstrates what can be achieved when families and organisations come together, share knowledge and combine their resources.

Together with the $100,000 committed by ACTA2 Alliance in the United States and our £10,000 UK commitment, this represents a significant collective investment in understanding MSMDS.

For an ultra-rare condition, this kind of international cooperation offers real hope.

Every donation helps move research forward

Research takes time, resources and funding. But every contribution, however small, can help make a difference.

You don't need to be directly affected by MSMDS to play a part in advancing research.

Whether you organise a fundraiser, make a donation, share our story or help raise awareness, you are contributing to a growing international effort.

There is currently no cure for MSMDS, but research is progressing, and we are determined to do everything we can to support the scientists working towards a better future.

To everyone who has supported ACTA2 Alliance UK so far: thank you.

Your generosity is helping us fund meaningful research, build international partnerships and create opportunities that simply wouldn't exist without the support of our community.

This £10,000 commitment is something we can all be proud of.

And we hope it is just the beginning.

Help us continue funding vital research

If you would like to support our mission and help us make further contributions towards MSMDS research, please consider donating or organising a fundraiser.

Donate here: https://www.acta2alliance.co.uk

Together, we can turn hope into progress.

ACTA2 Alliance UK — Raising awareness. Connecting families. Advancing research.