Media

Priority Review Voucher Tracking

The Priority Review Voucher (PRV) program incentivizes the development of drugs for rare pediatric and tropical diseases. 2 weeks ago
A New Test for Patient-Reporting of Mastocytosis Control

A New Test for Patient-Reporting of Mastocytosis Control

A team of allergists, immunologists, and dermatologists from Germany and the United States sought to test a new patient-reported outcomes measure for assessing mastocytosis disease control. 3 weeks ago

Progressive Familial Intrahepatic Cholestasis (PFIC): Diagnosing, Treating, Monitoring

Drs. Patrick McKiernan and Nadia Ovchinsky discuss the recently published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis (PFIC). 2 months ago

Consider Rare: Suspecting and Diagnosing Fibrodysplasia Ossificans Progressiva (FOP)

This educational webinar on fibrodysplasia ossificans progressiva (FOP), hosted by Ellen Elias, MD and Christiaan Scott, MD, examines best practices to suspect and diagnose this ultra-rare condition. 2 months ago
Neuroblastoma: Treatment

Neuroblastoma: Overview, Curie Scores, and Treatment Options

Greg Yanik, MD, Clinical Professor at University of Michigan's C.S. Mott Children's Hospital, provides an overview of this rare childhood cancer, goals of therapy, using the Curie score, and immunotherapy treatments. 2 months ago
Neuroblastoma: EVAN Foundation

Neuroblastoma: Evan Foundation

Gavin Lindberg details his family’s experience with neuroblastoma, provides advice to families, and discusses the EVAN Foundation. 2 months ago
Neuroblastoma

Neuroblastoma

Neuroblastoma is a rare childhood cancer, but it is the most common extracranial solid tumor in children. 4 months ago

Watch the DAYBUE® (trofinetide) in Practice Video Series to Hear Expert Insights on the First Treatment for This Rare Disease

Rett syndrome thought leaders discuss how DAYBUE™ (trofinetide), the first and only FDA-approved treatment for Rett syndrome in adults and pediatric patients 2 years of age and older, plays a role in their patients’ treatment plans, while shedding light on their personal experiences with DAYBUE in their practices. 5 months ago
Improving Health Equity in HAE

Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion

This panel discussion by three clinical research leaders in HAE, Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward. 5 months ago
WHIM Syndrome Overview

WHIM Syndrome: Overview, Diagnosis, and Management

Jean Donadieu, MD Service d'Hémato-Oncologie Pédiatrique, Hopital, Paris, provides an overview of WHIM syndrome. 5 months ago

Optimizing Therapeutic Proteins Through PEGylation: Key Parameters and Impacts

This Webinar examines what is PEGylation and the clinical uses of therapeutic proteins, and their applications in healthcare. 5 months ago
Hypoparathyroidism

Hypoparathyroidism

Hypoparathyroidism is a rare endocrine disorder characterized by a deficiency of parathyroid hormone (PTH), which leads to decreased serum calcium and increased phosphorus levels in the blood. 5 months ago

2025 Orphan Drugs: PDUFA Dates and FDA Approvals

Almost half of all novel medications approved by the U.S. Food and Drug Administration (FDA) are orphan drugs. Below is the list of important regulatory dates for all orphan drugs for 2025. 6 months ago
Impact of X-Linked Hypophosphatemia on Patient Experiences

Protected: Study Finds Wide-Ranging Impact of X-Linked Hypophosphatemia on Patient Experiences

There is no excerpt because this is a protected post. 6 months ago

Rates of Severe Neutropenia and Infection Risk in Patients Treated With Deferiprone: 28 Years of Data

Dr. Sujit Sheth discusses his recently published work in Blood Advances titled “Rates of severe neutropenia and infection risk in patients treated with deferiprone: 28 years of data." 8 months ago
Type 1 Galactosemia

Type 1 Galactosemia: Significant Unmet Need, Lifelong Complications, and Current Management

Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women. 8 months ago

Restless Legs Syndrome Treatment and Guidelines Update

Dr. Mark J. Buchfuhrer discusses clinical practice guidelines update suggesting against the standard use of dopamine agonists for the treatment of restless legs syndrome. 8 months ago
Primary Biliary Cholangitis Treatment

Navigating Diagnosis and Treatment for Primary Biliary Cholangitis: The Integral Role of the Patient Voice

Dr. Sonal Kumar, an Assistant Professor of Medicine, and Director of Clinical Hepatology at Weill Cornell Medical College in New York, NY discusses the integral role of the patient voice in navigating disease progression and determining an individualized care plan for people living with primary biliary cholangitis (PBC) that reflects their needs and treatment goals. 8 months ago