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 ...

The chronic use of a TGF-β-targeting phosphorodiamidate morpholino oligomer (PMO) and dystrophin exon-skipping PMO reduced muscle fibrosis and loss, restored dystrophin expression in skeletal and ...

The consequences of cystic fibrosis (CF) are extensive and affect almost every organ system. The clinical picture is broad and may present with acute or chronic manifestations. Gastrointestinal and ...

Momelotinib treatment leads to clear clinical benefits in patients with myelofibrosis (MF), according to results from a real-world study. Rare Disease Advisor, a trusted source of medical news and ...

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 ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

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 ...

My recent liver biopsy was a case study of Murphy’s Law in action. And as I share the details of my saga, I’m mindful that my experience is the exception, not the rule. I do not want to discourage ...

Positive topline data from a phase 1 clinical study (NCT04814498) of cudetaxestat (BLD-0409) have been presented by Blade Therapeutics, a South San Francisco biopharmaceutical company. The study ...

The prevalence of AATD in the offspring of parents with AATD in our study was 37%. A risk of pregnancy complications and adverse birth outcomes has been observed in mothers with alpha-1 antitrypsin ...

Between 1970 and 1995, the incidence of new NHL cases increased. Between 2007 and 2016, new cases declined by approximately 0.9% per year, and mortality from NHL decreased by 2.2% per year. 3 ...

BLANKENBERGE, Belgium—Herwig Lange, MD, has been researching Huntington disease (HD) since 1969. And he’s convinced that avoiding stress, eating healthy, and getting lots of exercise can delay the ...