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checkrare.bsky.social
CheckRare
@checkrare.bsky.social
170 followers 410 following 82 posts
Rare diseases are our focus, expertise, and passion.
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checkrare.bsky.social
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
checkrare.bsky.social
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
checkrare.bsky.social
💡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
checkrare.bsky.social
The U.S. Food and Drug Administration has recently approved the following treatments.

Stay up to date with new rare disease treatments approvals at checkrare.com/2025-orphan-...

#CheckRare #FDAApproval #RareDisease
June 3, 2025 at 2:55 PM
checkrare.bsky.social
David Curren, patient advocate and board member for Breath of Hope Rhode Island, discusses his grandson’s diagnostic journey with idiopathic pulmonary hemosiderosis.

checkrare.com/a-patients-d...

#CheckRare #RareLung #IPH
May 30, 2025 at 2:40 PM
checkrare.bsky.social
Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, discusses the company’s current drug development programs.

checkrare.com/camp4-therap...

#CheckRare #RareNeurology #RareMetabolic #UCD #SYNGAP1
May 29, 2025 at 7:09 PM
checkrare.bsky.social
Connie Lee, PsyD, Chief Executive Officer of Alliance to Cure Cavernous Malformations, discusses the diversity of patient advocacy group initiatives.

checkrare.com/the-diversit...

#CheckRare #PatientAdvocacy #RareDiseases
May 28, 2025 at 8:03 PM
checkrare.bsky.social
Professor Luis Masana provides a high-level overview of the following publication: Lomitapide for the Treatment of Paediatric Patients With Homozygous Familial Hypercholesterolaemia (APH-19): Results From the Efficacy Phase of an Open-Label, Multicentre, Phase 3 Study.
checkrare.com/lomitapide-f...
May 27, 2025 at 2:47 PM
checkrare.bsky.social
CME: Fabry Disease Research Highlights

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

#CheckRare #CME #FabryDisease
May 23, 2025 at 3:37 PM
checkrare.bsky.social
Johanna Rossell, Senior Vice President and General Manager of Rare Diseases at Sumitomo Pharma America, discusses best practices for navigating challenges of the orphan drug market.

checkrare.com/navigating-t...

#CheckRare #RareDisease #OrphanDrug
May 23, 2025 at 3:36 PM
checkrare.bsky.social
Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses how industry partners can support the mental health of rare disease communities.

checkrare.com/mental-healt...

#CheckRare #RareDisease #MentalHealth
May 23, 2025 at 1:08 AM
checkrare.bsky.social
Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies.

checkrare.com/urea-cycle-d...

#CheckRare #RareDisease #UCD #RareMetabolic
May 21, 2025 at 2:34 PM
checkrare.bsky.social
💡Rare Disease Spotlight: IgG4-RD

Learn more about this rare disease with our latest article checkrare.com/newly-approv...

#CheckRare #RareDisease #IgG4RD #RareAutoimmune #RareSkin
May 20, 2025 at 2:20 PM
checkrare.bsky.social
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
checkrare.bsky.social
Sonia Gobeil, co-founder of Ataxia of Charlevoix-Saguenay Foundation, discusses their organization and ongoing research for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

checkrare.com/ongoing-rese...

#CheckRare #RareNeurology #RareMusculoskeletal #ARSACS
May 16, 2025 at 3:30 AM
checkrare.bsky.social
New Educational Program: published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis (PFIC) and why the new guidance recommends the early use of IBAT inhibitors.

checkrare.com/progressive-...

#CheckRare #PFIC #RareGenetic
May 13, 2025 at 6:43 PM
checkrare.bsky.social
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
checkrare.bsky.social
Dean Suhr, President and co-founder of the MLD Foundation, discusses newborn screening updates and plans for gaining recommended uniform screening panel (RUSP) approval.

checkrare.com/newborn-scre...

#CheckRare #NewbornScreening #RareDisease
May 8, 2025 at 8:56 PM
checkrare.bsky.social
Nicola Longo, MD, PhD, discusses data presented at the 2025 ACMG Annual Clinical Genetics Meeting highlighting the benefits of sepiapterin in patients with classical phenylketonuria.

checkrare.com/recent-data-...

#CheckRare #RareMetabolic #PKU
May 7, 2025 at 4:27 PM
checkrare.bsky.social
New Program: Neuroblastoma

Greg Yanik, MD, Clinical Professor at University of Michigan’s C.S. Mott Children’s Hospital, discusses this rare childhood cancer.

checkrare.com/neuroblastom...

#CheckRare #Neuroblastoma #RareDisease #RareCancer
May 2, 2025 at 11:13 PM
checkrare.bsky.social
A recent survey assessed how hemophilia affects women’s lives.

In our recent interview, Shellye Horowitz, a patient with hemophilia and advocate, discusses the impact of hemophilia on women and girls.

checkrare.com/the-impact-o...

#CheckRare #RareHematology #Hemophilia
April 30, 2025 at 4:27 PM
checkrare.bsky.social
💡Rare Disease Spotlight: GVHD

Learn more about this rare disease with our latest article checkrare.com/atlg-versus-...

#CheckRare #RareDisease #GVHD #RareAutoimmune #RareHematology
April 30, 2025 at 1:05 AM
checkrare.bsky.social
Sindhu Ramchandren, MD, Johnson & Johnson, discusses updated results from the Vivacity-MG3 clinical trial in patients with generalized myasthenia gravis (MG).

checkrare.com/efficacy-of-...

#CheckRare #RareNeurology #MyastheniaGravis
April 25, 2025 at 11:41 PM
checkrare.bsky.social
A recent study published in Liver International analyzed patients with primary biliary cholangitis (PBC) who presented with higher IgG levels at diagnosis.

checkrare.com/effect-of-in...

#CheckRare #RareAutoimmune #RareGastrointestinal #PBC
April 25, 2025 at 1:37 AM
checkrare.bsky.social
Richard Lafayette, MD, discusses the recent approval of Vanrafia (atrasentan) for patients with IgA nephropathy.

checkrare.com/efficacy-of-...
#CheckRare #IgAN #RareKidney
April 18, 2025 at 7:14 PM