Maralixibat improves health-related quality of life in pediatric patients with Alagille Syndrome

A recent study demonstrated that the ileal bile acid transporter inhibitor maralixibat improves health-related quality of life (HRQoL) in children with Alagille syndrome. This study was published in The Journal of Pediatrics.

The ICONIC trial was a phase 2 study, having a 4-week double-blind, placebo-controlled, randomized drug withdrawal period. The study included 27 children having Alagille syndrome with moderate-to-severe pruritus. From baseline to week 48, the treatment response to maralixibat was noted using Itch-Reported Outcome (Observer) score. The HRQoL was assessed based on the certain scale scores that included Pediatric Quality of Life Inventory Generic Core, Family Impact, and Multidimensional Fatigue scale scores.

At week 48, twenty patients attained an Itch-Reported Outcome (Observer) treatment score response. The mean (SD) change in Multidimensional Fatigue score was higher was higher for responders over non-responders. The Pediatric Quality of Life Inventory Generic Core and Multidimensional Fatigue scores showed smaller and non-statistically significant point estimates.

Based on the results of the study, it can be concluded that maralixibat shows significant improvement in pruritis, thereby enhancing the quality of life in the affected children.

Clinical efficacy of a multitarget urine DNA test for urothelial carcinoma detection

According to a recent study, the multitarget urine tumor DNA test (UI-Seek) has displayed a robust performance and has substantial potential in detecting urothelial carcinoma (UC) at an early stage. This study’s findings were published in the journal, Molecular Cancer.

In order to generate a UC-score, the prediction model was created in a retrospective cohort (n = 382) by integrating assays for FGFR3 and TERT mutations, as well as aberrant ONECUT2 and VIM methylation. The test performance was later validated in a double-blinded, multicenter, prospective trial (n = 947).

The test performance demonstrated a sensitivity of 91.37% and a specificity of 95.09%. Sensitivity was 75.81% for low-grade Ta tumors and over 93% for high-grade Ta and higher stages (T1 to T4). UI-Seek simultaneously identified both bladder and upper urinary tract tumors with sensitivities above 90%. No significant confounding effects were noted with non-UC malignancies or benign urological diseases. The test exhibited higher sensitivities compared to urine cytology, the NMP22 test, and UroVysion FISH, while maintaining comparable specificities. Additionally, the single-target accuracy exceeded 98% as confirmed by Sanger sequencing. The post-surgery UC-score decreased in 97.7% of the subjects.

From the above study, it can be concluded that UI-Seek displays strong performance and has considerable potential for the timely detection of UC.

Sustained and moderating effects of a behavioural sleep intervention for autistic children

A recent study suggests that the Sleeping Sound intervention showed sustained improvements in child sleep among autistic children. The study’s findings were published in the Journal of Autism and Developmental Disorders.

This was a randomized controlled trial which included 150 autistic children aged 5-13 years, who had sleep problems. They were randomized either to the Sleeping Sound intervention or Treatment as Usual (TAU).

At the 12-month follow-up, the caregivers of the children reported a greater reduction in sleep problems in the Sleeping Sound group when compared to the TAU group. Those children who were taking sleep medication, children with greater autism severity, and children of parents who were not experiencing psychological distress showed greater long-term benefits with the intervention. Based on the above results, it can be concluded that Sleeping Sound intervention may show sustained improvements in child sleep.