Joined December 2016
- Tweets 14,473
- Following 1,655
- Followers 3,040
- Likes 2,866
1,626 Photos and videos
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Jan 12
🚨2026 orphan drug PDUFA & FDA approval dates are here! Get the latest timeline and status for rare disease therapies: checkrare.com/2026-orphan-dr…
#RareDisease #OrphanDrugs #FDA #PDUFA
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Jun 11
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
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Jun 10
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
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Jun 10
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
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Jun 9
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
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Jun 8
📢 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
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Jun 6
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
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Jun 4
🎗️Join us at the @CureFestUSA for Childhood Cancer event, hosted by the Arms Wide Open Childhood Cancer Foundation this September 18-20 in Washington, DC!
Featuring speeches, performances, games, activities, and a memorial shoe display, CureFest provides a platform to connect and foster collaboration with patients, families, caregivers, physicians, researchers, and elected representatives.
Register at curefestusa.org/
#CureFest2026
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Jun 3
đź’ˇRare Disease Spotlight: Prader-Willi Syndrome
Learn more about this rare disease with our Learning Center checkrare.com/prader-willi-s…
#CheckRare #RareDisease #PraderWilli #RareGenetic
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Jun 2
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!
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Jun 2
Just one week until World Orphan Drug Congress USA 2026! Connect with leaders, regulators, and patient advocates to advance rare disease therapies, clinical trials, and patient access strategies from June 9–11 in Boston.
Last chance to register at terrapinn.com/WODC/US/2026/C…
#WODC #WorldOrphanDrugCongress #OrphanDrugs #RareDisease #PatientAdvocacy
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Jun 1
Join us in celebrating CAH Awareness Month this June!
CAH is a group of rare genetic conditions caused by lack of 21-hydroxylase enzyme needed in the adrenal glands, causing the body to not be able to produce adequate cortisol.
Learn more about this rare disease and its diagnosis, management, and research advancements at checkrare.com/june-is-cah-aw…
#CheckRare #CAHAwarenessMonth #CAH #CongenitalAdrenalHyperplasia #RareEndocrine
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May 29
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
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May 28
Join the World Orphan Drug Congress USA 2026 from June 9-11 in Boston! Connect with leaders, regulators, and patient advocates to advance rare disease therapies, clinical trials, and patient access strategies.
Register now at terrapinn.com/WODC/US/2026/C…
#WODC #WorldOrphanDrugCongress #OrphanDrugs #RareDisease #PatientAdvocacy
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May 26
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
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May 22
Highlights from #AAN2026 are now live on our website! Learn about the latest research in rare neurology with leading physicians, advocates, and healthcare professionals.
checkrare.com/diseases/neuro…
#CheckRare #RareNeurologyDisorders #ClinicalTrials #PatientAdvocacy #RareDisease
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May 20
Join the World Orphan Drug Congress USA 2026! Connect with leaders, regulators, and patient advocates to advance rare disease therapies, clinical trials, and patient access strategies from June 9–11 in Boston.
Register now at terrapinn.com/WODC/US/2026/C…
#WODC #WorldOrphanDrugCongress #OrphanDrugs #RareDisease #PatientAdvocacy
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May 19
PLDG-1 is underdiagnosed, but with increasing awareness, and the availability of effective treatment, diagnosis and management of these patients can be improved today.
Learn more at checkrare.com/diagnosis-and-…
#CheckRare #PLGD #RareGenetic #RareDisease
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May 14
Systemic mastocytosis is a rare and often “hidden” disease that can present with a wide range of symptoms. Because it can mimic other conditions, diagnosis is often delayed.
This overview highlights the complexity of the disease, its impact across multiple organ systems, and the importance of greater clinical awareness to support earlier recognition and diagnosis.
Learn more: checkrare.com/an-overview-of…
#CheckRare #SystemicMastocytosis #RareAutoimmune #RareDisease
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May 12
Trofinetide is now available in a new oral powder formulation for the treatment of patients with Rett syndrome.
Learn how Daybue (trofinetide) Stix change disease management for patients at checkrare.com/daybue-trofine…
#CheckRare #RettSyndrome #RettSyndromeTreatment #RareNeurology #RareGenetic
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May 8
🔎New Learning Center- Neuroblastoma
Learn more at checkrare.com/neuroblastoma/
#CheckRare #RareDisease #Neuroblastoma #RareNeurology #RareCancer
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