Author Archives: Patricia Inacio PhD

Treatment with Vyondys 53 (golodirsen) for 48 weeks increases levels of dystrophin protein by 16-fold in boys with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping, updated results of a Phase 1/2 trial show. Also, the newly produced protein was correctly located in the membrane of muscle…

Treatment for six months with Increlex (mecasermin), an injectable form of insulin-like growth factor-I (IGF-I), enhanced growth in boys with Duchenne muscular dystrophy (DMD), a Phase 1/2 trial shows. However, the hormone therapy had no effects on muscle function. The study, “Recombinant human insulin‐like growth factor‐1…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

A small molecule, trichostatin A (TSA), increased the levels of a dystrophin-related protein known as utrophin, and improved the structure and function of muscles in a mouse model of Duchenne muscular dystrophy (DMD), a study found. The study, “High-throughput identification of post-transcriptional utrophin up-regulators for Duchenne muscle…

GPM Investments, the sixth largest convenience store chain in the U.S., is running its “Tis the Season for Giving” holiday campaign throughout December to support the Muscular Dystrophy Association (MDA). Since 2012, the company’s partnership with the association has generated more than $1.2 million, which has been used…

Loss of MICU1, a key regulator of calcium balance in cells, was seen to affect muscle function and repair in a study in mice and cells from people lacking this mitochondrial protein. These findings support the involvement of MICU1 in neuromuscular disorders, its researchers said, and its potential as a…

Treatment with a cell therapy candidate called dystrophin expressing chimeras (DECs) increased dystrophin levels in heart muscle and improved cardiac function in mice with Duchenne muscular dystrophy (DMD), a study has found. This cell therapy, by Dystrogen Therapeutics, will be tested in a clinical trial involving DMD patients,…

New nine-month data from a Phase 1/2 trial show that a single administration of the gene therapy SRP-9003 (formerly, MYO-101) at low dose significantly improved functional measures and lowered the levels of a biomarker of muscle damage in three children with limb girdle muscular dystrophy (LGMD) type 2E. The trial (…

Due to a lack of efficacy, Acceleron Pharma is halting the clinical development of its ACE-083 candidate for the treatment of facioscapulohumeral muscular dystrophy (FSHD) . Topline results from a Phase 2 clinical study showed that ACE-083 was well-tolerated and could significantly increase muscle mass, which was…

A review study highlights the benefits of adding an extra protein domain —  called neuronal nitric oxide synthase (nNOS) — to microdystrophin gene therapy. nNOS is an important player in regulating blood flow to muscle cells, and the reviewed evidence suggests it protects muscle against restricted blood flow (a condition…