Maggie's Pearl

Phase III clinical trial of pediatric subjects with PMM2-CDG begins crossover to open label epalrestat prnewswire.com/news-releases/…

Wrapping up an enlightening Rare Disease Caucus briefing on "Novel Approaches to Drug Development for Small Rare Disease Populations—and the Policies that Can Drive Them." A huge thank you to our insightful speakers (Adora Ndu, @eperlste , Dominique Pichard, Christine Waggoner, Annie Kennedy) Let's keep the momentum going and register for our #ScientificWorkshop2024 bit.ly/3crHRGd

Our collaborative work with the Tamas Kozicz and @EvaMorava team describing a new cortical brain organoid model of PMM2 Congenital Disorder of Glycosylation led by @Radenkovic_S and @budhraja_rohit has just been published in @CellReports #glycotime @FrontierCDG

In the latest collaboration efforts led by @kilroykishore and @Lab_Pandey , we identified complement4 as a novel biomarker for PMM2 deficiency! @FrontierCDG @CdgHub

Our pivotal Phase 3 trial advances to open label!

A collaboration between @PerlaraPBC, Maggie’s Cure, and @MayoClinic has announced significant progress in their Phase III trial of epalrestat, an experimental drug meant to combat a rare genetic disease. Read more here: prnewswire.com/news-releases/… #MayoClinic #Innovation #Genetics

🎉 That‘s a wrap! Thank you everyone! 🤝 Together, we‘ve expanded our knowledge, challenged preconceptions, and strengthened the bonds within our community. Let‘s keep pushing the boundaries and advocating for the CDG community. #6thWorldConferenceonCDG

This impactful work was enabled by a biotech #collaboration between @epalrestat and @MayoClinic.

Check out the tweetorial of our #FCDGC investigators at @rarediseasesnet for insights into new potential treatment for #PMM2-#CDG, now a phase III clinical trial.

After 4 years our article is finally out! Many thanks to supervisors @EvaMorava and @VIBMetaboCoreLV ! We investigate the link between abnormal glycosylation and polyol metabolism, and show targeting polyol metbolism results in improved glycosylation in PMM2-CDG! Check it out👇🏻

From made-to-order genetic therapies to model organisms engineered to be ‘patient avatars’, the technology exists right now to save patients with rare diseases go.nature.com/3JOQ5Jv

Personalized medicine is having its day From made-to-order genetic therapies to model organisms engineered to be ‘patient avatars’, the technology exists right now to save patients with rare diseases go.nature.com/3JOQ5Jv

.@MayoClinic entered into a know-how agreement with @epalrestat in 2021 to develop the first platform therapy for a group of related genetic inborn errors of metabolism called PMM2-CDG. Today that therapy is having real impact! Read more: …vidualizedmedicineblog.mayoclinic.org/2023/02/27/may… #RareDiseaseDay

Months after Maggie started taking an experimental drug for her ultra-rare genetic disease, she traded in her wheelchair for a walker. The 9-year-old also became better at feeding herself, her speech improved and she started coloring in the lines. mayocl.in/3xWxTrX

Meet Maggie Carmichael, a patient with a #CongenitalDisorderOfGlycosylation who is receiving a new treatment pioneered by Eva Morava-Kozicz, MD, PhD, principal investigator of @FrontierCDG, and collaborators: …vidualizedmedicineblog.mayoclinic.org/2023/02/27/may… #RareDiseaseDay #RDDNIH

A Mayo Clinic discovery has led to a life-changing treatment for young girl with an ultra-rare disease. Read more: mayocl.in/3kwNeMJ #RareDiseaseDay

Maggie’s Pearl Initiates Phase III Clinical Trial for Treatment of Patients with PMM2-CDG prnewswire.com/news-releases/…

To learn more, please reach out to the Clinical Research Coordinator at Mayo Clinic who is managing study enrollment: Ward.Jessica1@mayo.edu, 507-266-9619

The 40-patient placebo-controlled Phase 3 study of epalrestat for the treatment of PMM2-CDG is actively recruiting clinicaltrials.gov/ct2/show/NCT04…