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 ...

A new phase 2 clinical trial to test the safety, efficacy, and tolerability of TAK-411 for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) is now open. The open-label, ...

Women who desire to become pregnant should be counseled on the significance of alloimmunization as a substantial risk during pregnancy. A pregnant woman with hemolytic disease of the fetus and newborn ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...