Histopathologic examination of a skin biopsy showed no features of psoriasis, suggesting hypocalcemia-related pustulosis after excluding drug-induced and inflammatory etiologies. Timely identification ...

Given the results, the investigation of intranasal carbetocin in PWS has been halted. Intranasal carbetocin did not demonstrate clinical benefit for hyperphagia in patients with Prader-Willi syndrome ...

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 ...

The potential of axonal damage as a biomarker of disease severity and predictor of further outcomes is highlighted by its effect on functional disability, even in early disease stages. Patients who ...

Obeticholic acid, seladelpar, and elafibranor all significantly increased the biochemical response rate. Elafibranor seems to be slightly more effective than seladelpar as a second-line therapy in ...

Jerry Lewis, one of the most famous comedians of the 20th century, was a tireless advocate for people with muscular dystrophy. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews ...

New research indicates that obinutuzumab is a potentially effective and cost-effective treatment for patients with rituximab-resistant AAV. Obinutuzumab therapy demonstrated immunological superiority ...

Kine Sciences advanced KINE-101 to the phase 1b/2a study following the successful completion of a phase 1 study in the United States. The first patient in a new phase 1b/2a clinical trial to ...

A patient presented with task-related isolated transient weakness in her right hand, which started 15 years before and lasted for 9 years without worsening or improvement. Distal myasthenia gravis (MG ...

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 ...

In addition to improved functional AAT levels in the lungs, inhaled AAT demonstrated good safety and tolerability. Patients with alpha-1 antitrypsin deficiency (AATD) receiving inhaled ATT therapy ...

Testing for elevated tryptase levels and mast cell activation may reveal SM in cases with multiple possible diagnoses. Diagnosis of systemic mastocytosis (SM) was delayed in a patient due to symptoms ...