International Society for Mannosidosis and Related Diseases

06/12/2026

The International MPS Symposium was a powerful reminder of what can happen when patients, families, researchers, clinicians, industry partners, and advocates come together with a shared purpose.

We’re excited to share several important updates from ISMRD:

🧡 We officially launched our Alpha-Mannosidosis Newborn Screening Initiative and have identified a dedicated steering committee to help move this critical effort forward.

🩵 JCR has launched a Fucosidosis multi-center Natural History Study to better understand disease progression and support future therapeutic development.

🧡 Operation Second Stride is underway, mobilizing supporters and raising vital funds to advance the development of a gene therapy for Mucolipidosis. Every dollar raised helps move this promising program closer to the clinic.

🩵 Early planning is underway for a Mucolipidosis Roundtable, bringing together key stakeholders to prepare for clinical readiness

🧡 The Galactosialidosis and Sialidosis Natural History Studies at the NIH are actively enrolling participants.

🩵 Discussions surrounding patient registries, natural history data, and meaningful clinical outcome measures remain at the forefront as we work to prepare our community for future clinical trials.

While there is still much work to be done, the momentum across the ISMRD community continues to grow. Thank you to everyone who contributes their time, expertise, and passion to advancing research and improving the lives of individuals living with glycoprotein storage diseases.

Together, we are moving forward.

05/15/2026

Today, on International Mucolipidosis Awareness Day, we come together to raise awareness, support families, and shine a light on those living with Mucolipidosis.

Behind every diagnosis is a story of strength, resilience, courage, and unconditional love. While Mucolipidosis may be rare, the voices of this community matter deeply and deserve to be heard.

Awareness helps drive research, advocacy, earlier diagnosis, better treatments, and hope for the future.

Today we honor every warrior, caregiver, advocate, researcher, and loved one affected by Mucolipidosis. Your strength inspires us all.

Please help spread awareness by sharing this post and learning more about rare diseases. Together, we can make a difference.

05/13/2026

Two fierce advocates, Sam Jamil and Shirley Jamil, wrote a play titled Ward 76, inspired by Sam’s experiences growing up in the hospital.

The play explores conversations around rare diseases, particularly Mucolipidosis type III, alongside themes of friendship, loneliness, resilience, and identity. There’s also a touch of toilet humour and a subtle thread of mild horror woven throughout.

Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.

04/25/2026

In collaboration with the National MPS Society and the generous support of our community, we secured $25,000 to continue advancing the gene therapy program to treat Mucolipidosis at WashU.

Let’s keep the momentum going! Every dollar raised goes towards advancing this critical research.

Our goal is to raise $500,000 to fully support this initiative. 🧡🩵🧡 We’ve never been closer to a therapy than we are today.

Please consider donating and designate your donation to the ML Challenge Grant: Ismrd.org/how-to-make-a-donation/

03/29/2026

RESEARCH is ON THE MOVE for ML II/III — We Need Your Help NOW 🚨

Mucolipidosis family, friends, and supporters — we are reaching out with an urgent request to help advance groundbreaking gene therapy research for ML II alpha/beta, ML ll/III alpha/beta, and ML lll alpha/beta.

A Challenge Grant has been awarded to Dr. Patricia Dixon at Washington University to develop a promising gene therapy — a breakthrough that could change the future for our community.

As we prepare to test this gene therapy effort $24,375 is urgently needed to maintain this critical program and keep the research moving forward.

The overall challenge is to raise $500,000 to fully support this initiative by the end of 2027.

We finally have real momentum toward a therapy that could change lives forever. 🧡🩵🧡

Please consider donating today: https://www.ismrd.org/how-to-make-a-donation/

When donating, please designate your gift to the ML Challenge Grant so your contribution directly supports this vital research.

To see the latest research updates, visit our YouTube Channel. https://youtu.be/41WMU3W3r2A

Every donation helps keep this progress alive and brings hope to individuals and families affected by ML.