John Day, MD, PhD, Director of Neuromuscular Medicine at Stanford University, discusses the development of Itvisma gene therapy for patients with spinal muscular atrophy (SMA). checkrare.com/itvisma-gene-t… #CheckRare #RareMusculoskeletal #RareNeurology #SMA #SpinalMuscularAtrophy #DrugDevelopment

Thank you, Sports Day Sponsors!    ⭐️Premier Sponsor: @HaymarketMedNet ⭐️Champion Sponsor: M3 MI.  And: Centerpiece sponsor: @CheckRare Photographer & photobooth sponsor @ReachMD Pickleball tournament sponsor: Equals 5 Longest drive sponsor: @mdcalc  ammonline.org/sportsdayspons…

CheckRare is excited to once again serve as a media partner for the World Orphan Drug Congress. This event brings together leaders, innovators, advocates, and experts from across the rare disease community to share insights, discuss emerging trends, and explore opportunities to advance patient care and education. If you're attending, we'd love to connect. Stop by Booth #640 to learn more about how CheckRare supports rare disease education and awareness. #RareDisease #WorldOrphanDrugCongress #RareDiseaseCommunity #PatientAdvocacy @orphan_drugs

James Howard Jr., MD, Professor of Neurology at the University of North Carolina at Chapel Hill, discusses results from the ADAPT SERON clinical trial of efgartigimod IV in patients with seronegative generalized myasthenia gravis (gMG). Data from this trial was pivotal in efgartigimod’s recent FDA approval. Learn more at checkrare.com/results-from-t… #CheckRare #MyastheniaGravis #RareNeurology #RareAutoimmune #RareMusculoskeletal #ClinicalTrial #DrugDevelopment

Even though the ligneous lesions on the eye are generally the first symptom of PLGD-1, the deficiency can present in many different ways (and in virtually any organ system with mucous membranes). Learn about the key features of disease at checkrare.com/diagnosis-and-… #CheckRare #PLGD #RareGenetic #RareDisease

📢 May 2026 FDA Milestones in Rare Disease Care! Stay up to date with our 2026 PDUFA Dates and FDA Approvals page at checkrare.com/2026-orphan-dr… #RareDisease #FDAApproval #MedicalBreakthroughs #CheckRare

Today is officially World #COL6Day! 🎉 Join us in celebrating the inaugural World Collagen 6 Day, dedicated to promoting global compassion, research, and care for those affected by COL6-related myopathies. Join the Virtual Congress: col6.world/applicationform #CheckRare #RareDisease #COL6Day #COL6Myopathy #RareGenetic #RareNeurology #RareMusculoskeletal

💡Rare Disease Spotlight: Prader-Willi Syndrome Learn more about this rare disease with our Learning Center checkrare.com/prader-willi-s… #CheckRare #RareDisease #PraderWilli #RareGenetic

The #CheckRare team has been hard at work at #ASCO26 attending clinical data sessions. This was an exciting conference with a ton of presentations on the latest in #RareCancer!

June 6th is the 2nd World Collagen 6 Myopathy Day! We’re shining a light on COL6, an ultra-rare, genetic 🧬, neuromuscular disorder, impacting the lives of thousands of individuals. Learn more about COL6 by visiting col6.world/ #CheckRare #RareDisease #COL6Day #COL6Myopathy #RareGenetic #RareNeurology #RareMusculoskeletal

Narcolepsy is caused by the loss of hypocretin-/orexin-producing neurons, a discovery made in 1999 thanks to Dr. Mignot’s research that led to advances in diagnosis and treatment. Although current pharmacotherapy is still largely focused on symptomatic treatment, investigational orexin-2 agonists may be the future of disease modifying treatments in narcolepsy. Learn more at checkrare.com/narcolepsy-bre… #CheckRare #Narcolepsy #RareNeurology #RareGenetic #RareDisease

CheckRare is on site interviewing at #AANAM. Stay tuned for conference coverage, including an interview with Sumaira Ahmed of Sumaira Foundation on their new study comparing rituximab to approved drugs for NMOSD. #CheckRare #NMOSD #RareNeurology

In this symposium from WORLD 2026, leading experts in Fabry disease discuss the evolving treatment landscape. Explore how rational drug design is translating into meaningful clinical impact, with a focus on pegunigalsidase alfa and its emerging role in patient care at checkrare.com/rational-desig… #CheckRare #RareDisease #FabryDisease #RareLysosomal #RareLSD

Yesterday, CheckRare attended the Regional Cholangiocarcinoma Symposium at @MassGeneralNews and had the opportunity to tour the top lab in the world for bile duct cancer, led by Dr. Haley Ellis.

Updates regarding the phase 2 PIONEER study testing avapritinib (Ayvakit) in patients with systemic mastocytosis were presented at the 2026 AAAAI meeting. Learn more about results and next steps at checkrare.com/results-of-the… #CheckRare #SystemicMastocytosis #RareAutoimmune #RareDisease

❗Tomorrow, April 7th at 1:00pm EST. Last chance to sign up for our Live CME Webinar on Lysosomal Disorders and the Heart with Ozlem Goker-Alpan, MD, and John Jefferies, MD. Click the link to register: us06web.zoom.us/webinar/regi… #CheckRare #LiveCME #RareDisease #LDRTC

PLGD-1 is caused by defects in the PLG gene and is characterized by the body’s inability to produce adequate quantities of plasminogen. Dr. Amy Shapiro provides an overview of this rare genetic condition at checkrare.com/type-1-plasmin… #CheckRare #PLGD1 #RareGenetic #RareDisease

=📢 March 2026 FDA Milestones in Rare Disease Care! A busy month for FDA approvals in a variety of rare diseases. Stay up to date with our 2026 PDUFA Dates and FDA Approvals page at checkrare.com/2026-orphan-dr… #RareDisease #FDAApproval #MedicalBreakthroughs #CheckRare