Oral infigratinib demonstrated the first statistically significant improvement in body proportionality in a randomized achondroplasia trial. BridgeBio Pharma reported positive topline results from ...

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 ...

The authors used individual patient data from garadacimab trials (phase 2 and 3 VANGUARD) and published summary data from the phase 3 HELP trial for lanadelumab. Garadacimab may offer superior ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Miller, MD, a professor of pediatric endocrinology at the University of Florida in Gainesville who specializes in ...

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

A systematic review and meta-analysis of trials in CIDP was published in 2023, studying the outcomes of patients including at least 2 years of follow-up. Studies conducted over 1 to 2 years ...

Test Your Knowledge About the Genetics of Chronic Lymphocytic Leukemia Test Your Knowledge About the Prognosis of Chronic Lymphocytic Leukemia Test Your Knowledge About the Diagnosis of Chronic ...

Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Claire Booth, MBBS, PhD, of University College London in the UK and cofounder of the AGORA Initiative, which aims to tackle the ...

The majority (79%) of cardiac amyloidosis cases were responsible for sudden cardiac death. Cardiac amyloidosis can be associated with sudden cardiac death and is often undiagnosed during a person’s ...

With a $48 billion annual budget, the US National Institutes of Health is the world’s largest public funder of biomedical research. Scientists worry that cuts in grant funding will interrupt, or even ...

Patients with ATTR-CM and sinus rhythm may experience cryptogenic ischemic strokes due to immune-mediated endothelial damage. In a case report published in Frontiers in Cardiovascular Medicine, an ...