Clinical Insights

3D Printed Treatment Options | The CheckRare Brief

3D Printed Treatment Options | The CheckRare Brief

In this episode, we discuss a new formulation of treatment for HAE, the FDA approval of Voceryq for recurrent respiratory papillomatosis, and 3D printed treatment options.       New Formulation for HAE Approved The FDA has approved a new oral pellet...

Molecular Changes Associated With Teprotumumab Treatment in Thyroid Eye Disease

Molecular Changes Associated With Teprotumumab Treatment in Thyroid Eye Disease

Sarah Cheng, MD, PhD, a clinical oculoplastic fellow at the University of California, San Diego, discusses findings from an exploratory study examining the biological changes in orbital tissue associated with Tepezza (teprotumumab-trbw) treatment. The findings were presented at the 2026 American Academy of Ophthalmology (AAO) Annual Meeting in New Orleans, Louisiana.

Mirum’s Livmarli Achieves Primary Endpoint in Phase 3 EXPAND Study

Mirum’s Livmarli Achieves Primary Endpoint in Phase 3 EXPAND Study

Mirum Pharmaceuticals recently announced positive topline results from its phase 3 EXPAND study, evaluating Livmarli (maralixibat) for cholestatic pruritus in patients six months and older with ultra-rare cholestatic liver diseases. Jennifer Vittorio, MD, an EXPAND investigator, an Associate Professor of Pediatrics, and the Medical Director of Pediatric Liver Transplantation at NYU Langone Health, discusses the findings.

More

Ultragenyx Gets $203M in Second Priority Review Voucher This Month | The CheckRare Brief

On this episode, we discuss the FDA approval of Enspryng for TED, the new FDA Rare Disease Framework Initiative, Ultrangenyx’s second sold PRV this month, and using AI to reduce diagnostic delays....

Ultragenyx Sells PRV for $210M | The CheckRare Brief Ep 11

In this episode, we discuss Ultragenyx’s Priority Review Voucher that sold for $210 million, the efficacy of newborn screening on MLD, and ethical considerations needed to design and conduct...

The Genetics of Epilepsy: The Importance of Identifying Underlying Causes

The Genetics of Epilepsy: The Importance of Identifying Underlying Causes

This article discusses the importance of identfying the underlying causes and the genetics of epilepsy for accurate diagnosis and treatment.

Recent Videos

Social Wall

Could 3D printing help transform treatment options for rare diseases?

This week on The CheckRare Brief, explore this emerging approach alongside a new HAE treatment formulation and an FDA approval for recurrent respiratory papillomatosis.

🎙️ Listen to this week’s rare Read moredisease news roundup: https://checkrare.com/3d-printed-treatment-options-the-checkrare-brief/

#RareDiseaseResearch #DrugDevelopment #CheckRare

The National Organization for Rare Disorders (NORD) is hosting a free "Living Rare, Living Stronger" event in South Florida on Dec. 4, for rare disease patients, families, caregivers, and health care advocates. Connect with others on similar journeys and learn about locally available Read moreresources and opportunities. Register here: https://livingrare.org/florida/

The National Organization for Rare Disorders (NORD) is hosting a free "Living Rare, Living Stronger" event in South Florida on Dec. 4, for rare disease patients, families, caregivers, and health care advocates. Connect with others on similar journeys and learn about locally

What were the results from the EXPAND clinical trial of maralixibat in patients with ultra-rare cholestatic liver diseases?

View the full interview at https://checkrare.com/mirums-livmarli-achieves-primary-endpoint-in-phase-3-expand-study/

Mitchell Geffner, MD, Children’s Hospital of Los Angeles, discusses pediatric adrenocortical insufficiency.

Learn about the etiology, diagnosis, and management of PAI at https://checkrare.com/overview-of-arginine-vasopressin-deficiency/

#CheckRare #RareEndocrine Read more#PediatricAdrenalInsufficiency #PAI

Mitchell Geffner, MD, Children’s Hospital of Los Angeles, discusses pediatric adrenocortical insufficiency.

Learn about the etiology, diagnosis, and management of PAI at https://checkrare.com/overview-of-arginine-vasopressin-deficiency/

#CheckRare #RareEndocrine Read more#PediatricAdrenalInsufficiency #PAI

Nisha Joseph, MD, Associate Professor in the Department of Hematology and Medical Oncology at the Emory University School of Medicine, discusses how bispecific antibodies are changing multiple myeloma treatment.

View the full interview at Read morehttps://checkrare.com/how-bispecific-antibodies-are-changing-multiple-myeloma-treatment/