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 ...

Large v-waves with an amplitude of 10 mm Hg or more were a determinant of all-cause mortality and rehospitalization due to heart failure events in patients with wild-type ATTR-CM. Elevated v-wave ...

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 ...

A multidisciplinary approach is necessary for the deep phenotyping and proper clinical management of individuals with primary mitochondrial diseases. A large percentage of patients (60%) with primary ...

Coramitug is well tolerated and leads to a statistically significant reduction in N-terminal pro-brain type natriuretic peptide (NT-proBNP)—a marker of disease progression in transthyretin-mediated ...

The researchers reported that Scheuer stage score increased significantly with histological stage and GLOBE score. The GLOBE score of patients with primary biliary cholangitis (PBC) before treatment ...

Protecting the quality of life in rare diseases, such as TK2d, through pain prevention should not be an afterthought of treatment. With many rare diseases, pain management eventually becomes a part of ...

Awareness of the key symptoms of NF1 can help in early diagnosis. A young male patient was diagnosed with neurofibromatosis type 1 (NF1) after undergoing detailed clinical investigations, according to ...

Lonvoguran ziclumeran, an experimental gene editing therapy for HAE, is known as lonvo-z. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Catherine Miller, PharmD, global ...

Of the 33,829 blood donors analyzed, only 179 were D negative (0.53%). This finding complements existing studies on the relative rarity of this blood type in Asia. Among East and Southeast Asian ...

The mean gestational age at delivery was significantly higher in the late intrauterine transfusion group than in the early intrauterine transfusion group (P .001). Late intrauterine blood transfusions ...

Long-term vosoritide treatment produced sustained growth velocity increases of up to 2 cm/year over placebo in children with achondroplasia. Vosoritide, the first targeted pharmacologic therapy for ...