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

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

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

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

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

.Mayo Clinic entered into a know-how agreement with Maggie's Pearl 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

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

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

After 4 years our article is finally out! Many thanks to supervisors Morava Eva and VIB Metabolomics Core Leuven ! 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👇🏻

Check out the tweetorial of our #FCDGC investigators at Rare Diseases Clinical Research Network for insights into new potential treatment for #PMM2-#CDG, now a phase III clinical trial.

This impactful work was enabled by a biotech #collaboration between Maggie's Pearl and Mayo Clinic.

🎉 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

Our pivotal Phase 3 trial advances to open label!

A collaboration between Perlara, Maggie’s Cure, and Mayo Clinic 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

In the latest collaboration efforts led by Kishore Garapati and Akhilesh Pandey Lab , we identified complement4 as a novel biomarker for PMM2 deficiency! FCDGC CDG Hub

Our collaborative work with the Tamas Kozicz and Morava Eva team describing a new cortical brain organoid model of PMM2 Congenital Disorder of Glycosylation led by Sylvia Radenkovic and Rohit budhraja has just been published in Cell Reports #glycotime FCDGC

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, Ethan Perlstein bio/acc , Dominique Pichard, Christine Waggoner,