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 ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

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 ...

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 ...

Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...

Further research is needed to establish if there is a causative link between avacopan and liver injury. A patient with microscopic polyangiitis (MPA)—a form of antineutrophil cytoplasmic antibody ...

From landmark gene therapy approvals to illuminating discoveries into the pathogenesis of rare diseases, 2023 saw substantive advances in rare disease diagnosis and treatment. The following list of ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

The modified Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) is a psychometrically stable and unidimensional outcome measure, even though certain items are misfitting like those related to ...

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 ...