Rare Pediatric Disease

HONOLULU — Researchers have identified thousands of new sites in the placenta where genomic imprinting occurs, which they said could help identify genes that are associated with rare disorders.

SAN DIEGO — Among individuals with Rett syndrome, treatment with trofinetide was linked to improvements in caregiver-reported outcomes by 9 months, according to a speaker at the American Academy of Neurology Annual Meeting.

The FDA has approved an oral, small molecule MEK inhibitor for adult and pediatric patients 2 years of age and older with neurofibromatosis type 1 who have symptomatic plexiform neurofibromas not amenable to complete resection.

A Boston-area biopharmaceutical firm has submitted a biologics license application to the FDA for its investigational, fully human monoclonal antibody to treat individuals with spinal muscular atrophy.

Atsena Therapeutics initiated part B of the phase 1/2 LIGHTHOUSE study investigating ATSN-201 for the treatment of X-linked retinoschisis, according to a press release.

The FDA granted rare pediatric disease designation to VG901 for the treatment of retinitis pigmentosa caused by mutations in the CNGA1 gene, according to a press release from ViGeneron.

The FDA granted rare pediatric disease designation for HORA-PDE6b, a gene therapy for patients with inherited retinal dystrophy caused by mutations of the PDE6B gene, according to a press release from eyeDNA Therapeutics.

Atsena Therapeutics completed patient dosing in part A of the phase 1/2 LIGHTHOUSE clinical trial investigating a gene therapy designed for the treatment of X-linked retinoschisis, according to a press release.

The FDA granted rare pediatric disease and fast track designations to gildeuretinol, an investigational oral therapy for the treatment of Stargardt disease, according to a press release from Alkeus Pharmaceuticals.

The FDA granted rare pediatric disease designation for BPM31510T for the treatment of epidermolysis bullosa, BPGbio announced in a press release.