Treatment with nusinersen (Spinraza®) improves motor function in adult and pediatric patients with type 2 and 3 spinal muscular atrophy (SMA), according to a new meta-analysis study published in the Orphanet Journal of Rare Diseases. All of the studies reviewed reported an increase in Hammersmith Function Motor Scale Expanded (HFMSE) for treated patients, and the…
A new study found that patients with certain types of mutations to exon 11 of the KIT gene are at increased risk of recurrence for gastrointestinal stromal tumor (GIST) after complete resection. The study was published in Therapeutic Advances in Medical Oncology. The results demonstrated that 18 out of 36 patients (50%) with KIT exon…
Two case reports highlight drug-induced pulmonary arterial hypertension (PAH) as a rare possible side effect of carfilzomib use in multiple myeloma patients. The reports were published in Pulmonary Circulation. Both patients presented with severe dyspnea and transthoracic echocardiograms (TTE) revealed elevated right ventricular systolic pressures (RVSP) after multiple treatments with carfilzomib. The first patient’s PAH…
A new study found no correlation between delayed treatment due to the COVID-19 pandemic lockdown and a change in functional scores in children and adolescents with spinal muscular atrophy (SMA) in Italy. Due to the lockdown, 8 out of 25 patients (32%) experienced delays (median, 58 days; range 26-91) in their infusions of nusinersen, but…
A meta-analysis of preclinical gene therapy trials in spinal muscular atrophy (SMA) mouse models revealed that treated mice had a 3.23-fold increase in survival duration compared to controls. The results of the study, published in Gene Therapy, showed that this increased survival was observed for both nusinersen (Spinraza®) and onasemnogene abeparvovec-xioi (Zolgensma®) in preclinical trials…
A new study highlights the lengthy delay in diagnosis of idiopathic pulmonary fibrosis (IPF) and the need for optimization of disease management. The study reached out to 5193 physicians across France, Germany, Japan, and the US as part of the Adelphi IPF II Disease Specific Programme. A total of 244 physicians reported information on 1249…
Lysosomal acid lipase deficiency (LAL-D) begins affecting fetuses in utero and quickly exacerbates after birth, according to results published in the International Journal of Molecular Sciences. The study, performed in Lal knockout (Lal-/-) mice, showed that LAL-D alters lipid homeostasis in the placenta and unborn fetuses. The altered lipid homeostasis resulted in cholesteryl esters (CE)…
Fenofibrate showed therapeutic effects in Duchenne muscular dystrophy (DMD) models, according to a new study published in the British Journal of Pharmacology. During the study, treatment with fenofibrate improved muscle function and reduced muscle damage in mdx mice, the most common DMD animal model. The study showed that fenofibrate inhibited the expression of myostatin protein…
An increased incidence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) was found after its addition to the expanded neonatal screening program (ENBS) of Czechia, according to a new study published in the journal Nutrients. LCHADD is a form of long chain fatty acid oxidation disorder (LCFAOD) and prior to ENBS, 12 children were identified with…
A new research study investigating scientific publications from 1995 to 2019 found a rapid increase in those related to cholangiocarcinoma (CCA). The number of articles related to CCA grew from 108 in 1995 to 776 by 2019, according to Frontiers in Oncology. In this study, clinical terms identified from the analysis of Medical Subject Headings…
