Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

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#CheckRare #ALSP #RareNeurology #RareGenetic #Disease

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

💡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

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

David Curren, patient advocate and board member for Breath of Hope Rhode Island, discusses his grandson’s diagnostic journey with idiopathic pulmonary hemosiderosis.

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#CheckRare #RareLung #IPH

Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, discusses the company’s current drug development programs.

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#CheckRare #RareNeurology #RareMetabolic #UCD #SYNGAP1

Connie Lee, PsyD, Chief Executive Officer of Alliance to Cure Cavernous Malformations, discusses the diversity of patient advocacy group initiatives.

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#CheckRare #PatientAdvocacy #RareDiseases

CME: Fabry Disease Research Highlights

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

#CheckRare #CME #FabryDisease

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.

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#CheckRare #RareDisease #OrphanDrug

Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses how industry partners can support the mental health of rare disease communities.

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#CheckRare #RareDisease #MentalHealth

Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies.

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#CheckRare #RareDisease #UCD #RareMetabolic

💡Rare Disease Spotlight: IgG4-RD

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

#CheckRare #RareDisease #IgG4RD #RareAutoimmune #RareSkin

FDA Approves Treatment for Pheochromocytoma or Paraganglioma The U.S. FDA has approved belzutifan for patients with locally advanced, unresectable or metastatic pheochromocytoma or paraganglioma.

The U.S. FDA approved Welireg (belzutifan) for patients ages 12 years and older with locally advanced, unresectable or metastatic pheochromocytoma or paraganglioma.

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#CheckRare #FDAApproval #RareGenetic

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).

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#CheckRare #SMA #RareNeurology #RareMusculoskeletal

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).

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#CheckRare #RareNeurology #RareMusculoskeletal #ARSACS

Global Genes’ Patient and Advocate Initiatives Daniel DeFabio, Global Genes and rare disease father, discusses Global Genes’ patient and advocate initiatives.

Daniel DeFabio, Director of Community Engagement and Education at Global Genes, Co-Founder of Disorder: The Rare Disease Film Festival, and rare disease father, discusses Global Genes’ patient and advocate initiatives.

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#CheckRare #RareDisease #Advocacy

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.

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#CheckRare #PFIC #RareGenetic

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.

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#CheckRare #ConsiderRare #FOP

Dean Suhr, President and co-founder of the MLD Foundation, discusses newborn screening updates and plans for gaining recommended uniform screening panel (RUSP) approval.

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#CheckRare #NewbornScreening #RareDisease

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.

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#CheckRare #RareMetabolic #PKU

FDA Approves Myasthenia Gravis Treatment Nipocalimab The U.S. Food and Drug Administration (FDA) has approved Imaavy (nipocalimab) for the treatment of generalized myasthenia gravis (MG).

The U.S. FDA has approved Imaavy (nipocalimab) for the treatment of generalized myasthenia gravis.

checkrare.com/fda-approves...

#CheckRare #FDAApproval #MyastheniaGravis #RareNeurology #RareMusculoskeletal

New Program: Neuroblastoma

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

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#CheckRare #Neuroblastoma #RareDisease #RareCancer

2025 Orphan Drugs: PDUFA Dates and FDA Approvals Almost half of all novel medications approved by the U.S. FDA are orphan drugs. Below is the list of important regulatory dates for all orphan drugs for 2025.

The U.S. FDA has recently approved the following:

Zevaskyn (prademagene zamikeracel or pz-cel) for the treatment of wounds in patients with recessive dystrophic epidermolysis bullosa.

Learn more at checkrare.com/2025-orphan-...

#CheckRare #FDAApproval #RareDiseases

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.

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#CheckRare #RareHematology #Hemophilia

💡Rare Disease Spotlight: GVHD

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

#CheckRare #RareDisease #GVHD #RareAutoimmune #RareHematology

Sindhu Ramchandren, MD, Johnson & Johnson, discusses updated results from the Vivacity-MG3 clinical trial in patients with generalized myasthenia gravis (MG).

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#CheckRare #RareNeurology #MyastheniaGravis

A recent study published in Liver International analyzed patients with primary biliary cholangitis (PBC) who presented with higher IgG levels at diagnosis.

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#CheckRare #RareAutoimmune #RareGastrointestinal #PBC

Richard Lafayette, MD, discusses the recent approval of Vanrafia (atrasentan) for patients with IgA nephropathy.

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#CheckRare #IgAN #RareKidney

A recent study published in The Journal of Clinical Endocrinology & Metabolism analyzed the use of digital voice analysis as a biomarker of acromegaly.

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#CheckRare #Acromegaly #RareEndocrine

Carla Nester, MD, discusses the recent FDA approval of iptacopan as the first and only treatment of adults with C3 glomerulopathy.

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#CheckRare #C3G #RareKidney #RareAutoimmune