National MPS Society

I am so very proud to live in a state where public health is held at the highest standards. This is in part because of our dedicated Director of Public Health Labs, Scott Shone, PhD, HCLD(ABB). Thank you for your leadership it has been an honor to work with you on MPS. I have learned so much. Continue to Lead, Mentor, and Advocate. Thank you Governor Roy Cooper for this significant proclamation.

Meet Benji, one of the many faces of MPS! "He is one of the most positive, grateful children I know," Benji's mother, Tamara, described him. "He loves life, singing, and school, and while [his MPS diagnosis] isn’t a journey we would have wanted to be on, we would not change our son in any way.” Read more about Benji and his story on our website: https://ow.ly/8HCy50TlpBP

We are so pleased to share this update on RGX-121, an investigational gene therapy for #MPSII (#HunterSyndrome), from REGENXBIO Inc.! Updates like these always lift our spirits, as continued research and new treatments mean we are growing ever closer to finding a cure for all types of #MPS. If you'd like to read more about this therapy and its trial results, please visit their website: https://ow.ly/eUo350Tgvek

We are ecstatic about this news from Denali Therapeutics! This plan to file for accelerated approval of Tividenofusp Alfa (DNL310) for #MPSII provides hope, and a path to treatment for those affected by #HunterSyndrome 💜

In case you missed it: Society members Christopher & Jacob Hohn recently won one of Sanofi's coveted 2024 TORCH Awards! Congratulations to two very deserving winners 💜 Watch the video now: https://ow.ly/hWsB50T8Zn7 #MPS #ML #MPSI #RareDisease #HurlerSyndrome

Thankful to be attending the MetabERN and ISNS sponsored SSIEM 2024 Annual Symposium roundtable on #newbornscreening. Dr. Jim Bonham gave a great introduction. Proud to be representing the National MPS Society and of all that the #mucopolysaccharidosis research, clinical, and stakeholder community have done to make the MPS disorders a leading group of indications for newborn screening.

September 2nd means SSIEM 2024 Annual Symposium. I am excited to return to this critical meeting for Inborn Errors of Metabolism. Last year, in Jerusalem I was proud to present an abstract on the Collaborations Rare Disease Registries and Real World Evidence on behalf of Sanofi Advisory Patient Registries. I return with my colleague Matthew Ellinwood from National MPS Society and look forward to networking and catching up with colleagues from around the world. If you are there, send me a message! The program looks fantastic.

🎉 September is Newborn Screening Awareness Month! 🍼 Early detection through newborn screening is a game-changer for those affected by #MPS and #ML. By catching these conditions early, we can provide intervention and treatment options that can improve outcomes and help children lead healthier lives from the start. If you'd like to get involved and help the Society advocate for increased #NewbornScreening for MPS and ML in the United States, consider joining our Advocacy Committee: https://ow.ly/sR9O50Ta5fa

Interested in learning more about our #50Years of advocacy, family support, research, and more? Visit our website to read the full history of the Society: https://ow.ly/Z5wS50T8Txz #MPS #ML #RareDisease #HurlerSyndrome #HunterSyndrome #Sanfilippo #MorquioSyndrome #MaroteauxLamySyndrome #SlySyndrome #HyaluronidaseSyndrome

Congratulations to our wonderful CEO Terri L. Klein and the other members of Sanofi's Rare Disease Registries Patient Council on their recent publication in Orphanet Journal of Rare Diseases! Follow the link to view their publication, titled "Rare lysosomal disease registries: lessons learned over three decades of real-world evidence." https://lnkd.in/ed5_XiB8 #RareDisease #MPS #ML