Intercept Pharmaceuticals, the developer of the PBC drug, suggested that the company's view on the drug's benefit and risk profile differed from that of the US Food and Drug Administration.

Results support incorporating discussions of adverse events alongside efficacy in shared treatment decision-making. Progression-free survival (PFS) and the impact of adverse events (AEs) on quality of ...

Anti-transferrin receptor (TfR) antibody-coupled acid-alpha-glucosidase (GAA) led to robust glycogen clearance and reduced neuroinflammation in the central nervous system of a mouse model of Pompe ...

Relatives who underwent screening were diagnosed and began treatment significantly earlier than the proband by more than a decade. Systematic family screening through genetic testing plays a critical ...

Patients with AATD had a 1.6-fold higher risk of any type of middle ear surgery, even after adjusting for age, sex, COPD, and liver cirrhosis. Patients with alpha-1 antitrypsin deficiency (AATD) are ...

The highest risks were observed for bladder cancer, leukemia, nonmelanoma skin cancer, and kidney cancer. Patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) have a ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Despite his kappa-restricted gammopathy and suspicion of AL amyloidosis, further investigation yielded the accurate diagnosis. Transthyretin amyloid cardiomyopathy (ATTR-CM) can present with a ...

The potential of vitamin D as an add-on therapy lies in its immunomodulatory effect on T cell-mediated and humoral immune responses, complement activation, cytokines, and inflammasomes. Vitamin D ...

From left: Chelsea Miller, her sons Levee and Kassian, and their father, Jon Rock, at Seattle Children’s Hospital (Photo by Stephene Gaitan) Children with TK2d often stop achieving milestones like ...