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 ...

A pattern recognition approach takes into account factors like disease progression rate, whether the disease symptoms are symmetrical or asymmetrical, whether they are predominantly distal or proximal ...

In terms of glucocorticoid remission, the rituximab cohort achieved better results (52.1%) compared with the intravenous cyclophosphamide group (30.9%). Rituximab was found to be significantly ...

Denecimig aims to help the body form blood clots more effectively by mimicking the role of FVIIIa and bridging factor IXa and factor X to restore thrombin generation and support normal clot formation.

The authors noted that the symptoms often led to limited mobility, reduced independence, and difficulties with self-care and employment. Neuromyelitis optica spectrum disorder (NMOSD)-related symptoms ...

Emerging therapies such as bezuclastinib and elenestinib show promise in improving disease control with potentially fewer toxicities. Other novel strategies, such as immune-based therapies, are under ...

Dr. Hirano has seen about 50 patients with TK2d and is currently treating 26 of them. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews neurologist Michio Hirano, MD, of Columbia ...

Larry Luxner, senior correspondent for Rare Disease Advisor (RDA), interviews cardiologist Pradeep P.A. Mammen, MD, of the University of Kansas School of Medicine, on the growing awareness of girls ...

Carolina Barnett-Tapia, MD, PhD, is an associate professor of neurology at the University of Toronto. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Carolina Barnett-Tapia, MD ...

Venetoclax-based regimens showed a trend toward improved survival compared to BTK inhibitors, although subgroup sizes were small. Novel agents were associated with improved overall survival (OS) and ...

The updated 2025 BSR management recommendations for patients with AAV provide systematic and evidence-based recommendations to support UK clinicians in managing AAV across the entire life course.