Rare Disease Report®

Reports of a half-dozen confirmed cases of the rare vision-threatening condition has spurred conversation around the first-in-class geographic atrophy drug.

This approval is the first for an FLT3 inhibitor and it's specifically indicated for patients who have FLT3-ITD.

A year of research emphasizes the significance of collaboration, standardized approaches, and targeted therapies in rare pulmonary diseases.

If approved, OFEV (nintedanib) would be the first and only approved treatment for children and adolescents aged 6-17 years old with fibrosing interstitial lung disease.

New Study Reveals Efficacy of Bevacizumab in Treating Severe Cases of Pulmonary Papillomatosis.

Investigators aimed to support extending the US FDA labeling of Xembify to include the biweekly dosing option, therefore, providing greater flexibility and convenience for patients managing their immunodeficiencies.

The findings show liver complications and cirrhosis as major causes of morbidity in patients with SCD, with implications for treatment and care.

Experts emphasize the fundamental principles of integrative care, the success seen in treating rare diseases, and how it can be applied to all chronic diseases.

Dr. Juliana Biondo discusses what the future of treatment for hemophilia A looks like based on ongoing trials.

Dr. Juliana Biondo discusses the exciting FDA approval of Roctavian and how it compares with other treatment options like Hemlibra.

The approval is supported by positive results from the largest and longest phase 3 study for gene therapy in hemophilia, showing a 52% reduction in annualized bleeding rate compared with baseline rates on routine prophylaxis.

Significant improvements seen in hematologic parameters, visceral volumes, and plasma biomarkers in patients with Gaucher disease, suggesting its potential as an alternative therapy, particularly for those who cannot access enzyme replacement therapy.

Janssen reported significant benefit, and a tolerable profile, for the investigative drug that may become the first indicated to treat HDFN.

COVID-19 vaccination in patients with cystic fibrosis generates antibody responses similar to those in the general population, according to a recent study

Findings show patients hospitalized for COVID-19 have an increased 1-year risk of venous thromboembolic disease compared with those hospitalized for influenza (HR, 1.77; 95% CI, 1.36-2.31).

According to investigators, this is among the largest studies describing the risk of bacteremia in young patients with sickle cell disease.

Among other associations, those in educational attainment, employment status, mental health, and pain episode frequency and severity highlight the need for comprehensive care that considers the psychological well-being of individuals with SCD.

The approval makes odevixibat the second IBAT inhibitor approved for the rare genetic disease, with capability to benefit both liver damage and itch symptoms.

Gain-of-function STAT4 variants in patients with disabling pansclerotic morphea suggest a potential therapeutic role for JAK inhibition, resulting in improved clinical symptoms and inflammatory markers.

Celularity's clinical trial of CYNK-001 for relapsed and refractory AML showed excellent tolerability, significant graft-versus-leukemia effects, and potential for flexible therapeutic development.

The phase 3 clinical trials evaluating ziritaxestat for treating idiopathic pulmonary fibrosis showed no improvement in clinical outcomes leading to the termination of the trials due to lack of efficacy.

In 2022, dupilumab became the first treatment approved by the US Food and Drug Administration for the treatment of patients with EoE.

The genetic rare disease is characterized by a greater risk of premature mortality and worsened quality of life. Emerging IBAT inhibitors are helping address both issues.

The FDA approval comes with supporting data showing the ERT's non-inferiority to agalsidase beta in controlled eGFR decline.

The long-term extension SENSCIS-ON trial shows patients receiving nintedanib over 3 years were not at significantly greater risk of serious adverse events or outcomes.

An analysis of national data shows Asian and male patients are at worse risk of mortality, however.

An analysis of data from the National Inpatient Sample offers an overview of risk for adverse delivery outcomes associated with Takayasu arteritis among a real-world cohort of US-based patients.

Dupilumab became the first approved treatment for eosinophilic esophagitis in 2022.

The announcement resulted from the FDA’s request for manufacturing, administration, and patient monitoring information.

Patients with myasthenia gravis have a higher risk of COVID-19-associated emergency department visits, hospital admissions, and 30-day mortality, but vaccination acceptance rate was high among the population