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 ...

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 ...

Z-rostudirsen is designed to enable production of near full-length dystrophin in both muscle and the central nervous system, unlike similar therapies that target muscle alone. Dyne Therapeutics has ...

The CAPTIVATE trial met its target of at least 20 responders among the first 40 participants before all 40 completed part A. Dianthus Therapeutics announced an early “go” decision for claseprubart for ...

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 ...

The US Food and Drug Administration (FDA) has cleared AnemoCheck Home for patients with sickle cell disease (SCD), iron deficiency anemia, vitamin B12 deficiency anemia, folate deficiency anemia, and ...

Sharon Hesterlee, PhD, who previously served as chief research officer at the MDA, has been named interim president and CEO. Donald S. Wood, PhD, has retired from the Muscular Dystrophy Association ...

Inherited genetic metabolic disorders, including carnitine palmitoyltransferase II (CPT-II) deficiency, should well be presumed in adults with recurrent events of rhabdomyolysis because of its swift ...

In rare disease medicine, time is never neutral. For children with thymidine kinase 2 deficiency (TK2d), time can make the difference between irreversible decline and meaningful intervention. My son’s ...

Although anti-D remains the most common cause of HDFN, physicians should be mindful that lesser known antibodies are still are risk factor. A young pregnant woman was diagnosed with hemolytic disease ...

In a phase 3 trial, participants taking venglustat demonstrated statistically significant improvement in neurological symptoms compared with those receiving ERT. Sanofi announced that the US Food and ...

As winter sets in, many people enjoy a hot mug of cocoa, snuggly sweaters, and outdoor activities such as walking through town to watch the lighting of the town tree or skiing with friends. There are ...