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CheckRare had a great time at the Boston Globe's Rare Disease Summit this week!

#BostonGlobe #CheckRare #RareDisease
February 27, 2025 at 11:10 PM
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📹The CheckRare team spent the week at #WORLDSymposia 2025

Stay tuned for our interviews from the conference!

#CheckRare #RareDisease
February 7, 2025 at 7:10 PM
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💡Rare Disease Spotlight: Polycythemia Vera

Learn more about this rare disease at checkrare.com?s=polycythem...

#CheckRare #RareDisease #PolycythemiaVera #RareHematology
February 12, 2025 at 2:11 AM
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Today is Rare Disease Day!

Visit checkrare.com/rare-disease... for more information.

#CheckRare #RareDiseaseDay #RareDisease #Disease
Rare Disease Day 2025
Rare Disease Day, observed on the last day of February every year, is a reminder of the challenges faced by those living with a rare disease.
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February 28, 2025 at 6:26 PM
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💡Rare Disease Spotlight: Fabry Disease

Learn more about this rare disease at checkrare.com?s=Fabry+Dise...

#CheckRare #RareDisease #FabryDisease #RareLysosomal
February 26, 2025 at 7:59 PM
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💡Rare Disease Spotlight: Gaucher Disease

Learn more about this rare disease with our latest article checkrare.com/a-global-col...

#CheckRare #RareDisease #GaucherDisease #RareLysosomal
March 13, 2025 at 7:35 PM
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Carsten Utoft Niemann, MD, PhD, Copenhagen University Hospital, discusses results from the GLOW clinical trial in chronic lymphocytic leukemia (CLL).

checkrare.com/results-from...

#CheckRare #RareDisease #RareCancer
February 14, 2025 at 5:45 PM
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Dawn Laney, genetic counselor at the Emory University School of Medicine, discusses a Fabry disease registry analysis examining growth in children being treated with agalsidase beta.

checkrare.com/improved-gro...

#CheckRare #FabryDisease #RareLysosomal
March 11, 2025 at 5:16 PM
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Caroline Hastings, MD, Professor of Pediatrics at UCSF Benioff Children's Hospital Oakland, discusses an open-label study of patients under 3 years of age with Niemann-Pick disease type C (NPC) being treated with Trappsol Cyclo.

shorturl.at/wLftJ

#CheckRare #NPC #RareMetabolic #RareDisease
March 13, 2025 at 7:34 PM
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💡Rare Disease Spotlight: SYNGAP1-Related Disorders

Learn more about this rare disease with our latest article checkrare.com/the-current-...

#CheckRare #RareDisease #SYNGAP1 #RareNeurology #RareGenetic
June 11, 2025 at 3:53 PM
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A recent study published in The Journal of Clinical Endocrinology & Metabolism analyzed the use of digital voice analysis as a biomarker of acromegaly.

checkrare.com/digital-voic...

#CheckRare #Acromegaly #RareEndocrine
April 17, 2025 at 5:14 PM
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Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

checkrare.com/a-familys-ex...

#CheckRare #ALSP #RareNeurology #RareGenetic #Disease
June 12, 2025 at 2:37 PM
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💡Rare Disease Spotlight: Sanfilippo Syndrome Type A

Learn more about this rare disease with our latest article checkrare.com/gene-therapy...

#CheckRare #RareDisease #MPSIIIA #RareNeurology
March 4, 2025 at 11:17 PM
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Genetic Testing for WHIM Syndrome: reducing barriers, proper panel analysis, and how to deal with variants of uncertain significance.

Learn more at checkrare.com/genetic-test...

#CheckRare #WHIMSyndrome #RareGenetic #RareAutoimmune #RareSkin
June 11, 2025 at 3:54 PM
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💡Rare Disease Spotlight: Congenital Adrenal Hyperplasia

Learn more about this rare disease with our latest article checkrare.com/fda-approval...

#CheckRare #RareDisease #CAH #RareGenetic
February 20, 2025 at 5:23 PM
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In the rare disease space, clinical trials often fail due to:
Poor design
Unclear endpoints
Lack of patient input
Small and diverse patient populations

However, collaboration can improve trials. Find out how at checkrare.com/optimizing-c...
#CheckRare #RareDisease #ClinicalTrial
March 5, 2025 at 5:35 PM
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Consider Rare: Suspecting and Diagnosing Fibrodysplasia Ossificans Progressiva (FOP)

Ellen Elias, MD and Christiaan Scott, MD, examine best practices to suspect and diagnose this ultra-rare condition.

checkrare.com/suspecting-a...

#CheckRare #ConsiderRare #FOP
May 9, 2025 at 5:30 PM
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The U.S. Food and Drug Administration (FDA) has approved Ctexli (chenodiol) for the treatment of cerebrotendinous xanthomatosis (CTX) in adults.

checkrare.com/fda-approves...

#CheckRare #RareMetabolic #CTX #FDAApproval
February 26, 2025 at 5:34 AM
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CheckRare is proud to once again be a partner with Informa Connect's 2025 Rare Disease Summit in Philadelphia. #RareDiseaseSummit #CheckRare #RareDisease
March 19, 2025 at 3:05 AM
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Anita D’Souza, MD, Medical College of Wisconsin, discusses results from the MajesTEC-2 and TRIMM-2 clinical trials for combination therapy teclistamab + daratumumab + pomalidomide (tec-DP) in patients with multiple myeloma.

checkrare.com/results-from...

#CheckRare #RareDisease #RareCancer
Results from the MajesTEC-2 and TRIMM-2 Clinical Trials for Patients With Multiple Myeloma
Anita D’Souza, MD, discusses results from the MajesTEC-2 and TRIMM-2 clinical trials for tec-DP in patients with multiple myeloma.
checkrare.com
February 12, 2025 at 8:10 PM
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Kelly Guillo, Board Member of the Prader-Willi Syndrome Association in Georgia, discusses Prader-Willi syndrome (PWS) from the perspective of a caregiver.

checkrare.com/prader-willi...

#CheckRare #PraderWilliSyndrome #RareGenetic #RareEndocrine
March 22, 2025 at 2:56 AM
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Barbara Burton, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine, discusses a recent study examining the effectiveness of idursulfase in young patients with MPS II.

checkrare.com/effectivenes...

#CheckRare #MPSII #RareLysosomal #RareMetabolic
March 7, 2025 at 8:03 PM
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FDA Approval: The U.S. Food and Drug Administration has approved Gomekli (mirdametinib) for the treatment of adult and pediatric patients with neurofibromatosis type 1-associated plexiform neurofibromas.

checkrare.com/fda-approves...

#CheckRare #FDAApproval #RareGenetic
February 12, 2025 at 8:26 PM
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Norman Putzki, MD, Global Development Head of Neuroscience and Gene Therapy at Novartis, discusses positive safety and efficacy data for OAV101 IT, an investigational gene therapy for spinal muscular atrophy (SMA).

checkrare.com/positive-saf...

#CheckRare #SMA #RareNeurology #RareMusculoskeletal
May 19, 2025 at 2:26 PM
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CME: Fabry Disease Research Highlights

Learn more at checkrare.com/learning/p-f...

#CheckRare #CME #FabryDisease
May 23, 2025 at 3:37 PM