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 ...

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 ...

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 ...

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 ...

In the FRONTIER3 trial, 74.3% of children receiving once-weekly Mim8 prophylaxis experienced zero treated bleeds. Mim8, an investigational factor VIIIa mimetic bispecific antibody, demonstrated ...

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 ...

Statistical analysis revealed a strong relationship between WIS and PBC-40 and a moderate to strong relationship with the Beck Depression Inventory-II score. The primary biliary cholangitis (PBC)-40 ...

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 ...

Microscopic examination of the patient's fibroblasts after treatment revealed improved FXN levels. Antisense oligonucleotide (ASO) therapy appears to be a viable therapeutic alternative for Friedreich ...

This comprehensive popPK analysis adds to the pool of knowledge on oligonucleotide PK properties and helps optimize the appropriate use of imetelstat. The nonlinear mixed-effects model identified ...