Author Archives: Marta Figueiredo PhD

A Phase 1 clinical trial evaluating Edgewise Therapeutics’ experimental oral therapy EDG-5506 in healthy volunteers and men with Becker muscular dystrophy (BMD) has dosed the first BMD patients. The study (NCT04585464) is currently recruiting up to eight men, ages 18 to 55, with BMD at its…

Brain abnormalities in people with adult-onset myotonic dystrophy type 1 (DM1) are significantly associated with cognitive impairment, apathy, and daytime sleepiness, a study shows. Notably, no such link was found for depression and anxiety, suggesting that these commonly reported symptoms are instead secondary manifestations of living and coping with…

A team of researchers received a $3-million grant from the Chan Zuckerberg Initiative to create a comprehensive blueprint of healthy skeletal muscle cells — whose dysfunction is associated with several rare muscle diseases, such as muscle dystrophy — as children grow. Muscular dystrophy comprises a group of more…

The U.S. Social Security Administration (SSA) has added Duchenne muscular dystrophy (DMD) to its Compassionate Allowances (CAL) program list, accelerating the disabilities application process for adults with this genetic disorder. The program is designed to identify severe medical diseases and conditions that automatically meet the SSA’s standards for…

A Phase 1b clinical trial evaluating Astellas Pharma’s ASP0367 is recruiting boys with Duchenne muscular dystrophy (DMD), ages 8–16, at six U.S. sites. The ongoing trial (NCT04184882) is evaluating the safety and tolerability of the investigational oral therapy, which is designed to improve muscle function in patients with DMD,…

Long-term treatment with Viltepso (viltolarsen) safely and effectively prevents a decline in motor function in boys with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Those are the findings of two-year data from a Phase 2 trial of Viltepso, an exon-skipping therapy being developed by…

CureDuchenne has launched the first comprehensive data hub to connect biosamples and clinical and genetic data from people with Duchenne and Becker muscular dystrophies — as well as disease carriers — with clinicians, researchers, and therapy developers. Called CureDuchenne Link, this next-generation data-sharing platform is expected…

High levels of the toxic RNA molecule associated with myotonic dystrophy type 1 (DM1) lead to defects in muscle regeneration and in the number of muscle stem cells — or satellite cells — and promotes muscle fibrosis (scarring) upon injury, according to a study in a mouse model of DM1.

A CRISPR-Cas9-based gene editing therapy promoted the production of a smaller but functional version of the dystrophin protein in a new mixed mouse model that uses muscle cells derived from Duchenne muscular dystrophy (DMD) patients. The therapy is designed to delete a DMD gene region that is commonly mutated in people…

The muscles of people with Duchenne muscular dystrophy (DMD) show profound impairment, with changes in fatty molecules and energy metabolism, as compared with those of their healthy peers, a small French study revealed. While previous studies have reported such metabolic changes in DMD patients, this was the first…