The use of corticosteroids in patients with Duchenne muscular dystrophy (DMD) after their loss of ambulation (LOA) may delay the onset of abnormal percent predicted forced vital capacity (ppFVC), according to an article published in Muscle & Nerve. Boys with DMD who continued corticosteroid use for at least 1 year after LOA had a statistically…
The first patient was dosed in a phase 1 clinical trial of testing the safety, tolerability, and efficacy of dystrophin expressing chimeric cells DT-DEC01 treatment for Duchenne muscular dystrophy (DMD). “We are very pleased to begin dosing patients in our pilot study,” Kris Siemionow, MD, PhD, founder and chief executive officer of Dystrogen Therapeutics said in…
We explore the rarely discussed relationship between lysosomal acid lipase deficiency (LAL-D) and bone homeostasis.
Adult patients with spinal muscular atrophy (SMA) type 2 and type 3 who cannot walk as well as their caregivers strongly prefer treatments that stabilize or improve motor and breathing function, according to a new study published in PharmacoEconomics. They also prefer daily oral treatments vs other modes such as intrathecal injections and intravenous infusions.…
The methylation patterns of the genes PAX6, HB9, CHAT, ARHGAP22, and SMN2 are different in cells from patients with spinal muscular atrophy (SMA) compared to those in healthy patients, according to a new study published in the journal Gene. “This study clarifies the specificities of the disease pathogenesis and extends the knowledge of pathways involved in…
Researchers successfully identified hub genes for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) using weighted correlation network analysis (WGCNA), as published in BMC Genomic Data. The mainstay of DMD and BMD treatment remains as corticosteroid therapy, mobility exercise, treatment of cardiomyopathy, and more recently, gene therapy. “However, it is reported that genetic therapy…
Younger patients with Duchenne muscular dystrophy (DMD) who are within a healthy weight range are overconsuming energy-dense and nutrient-poor foods, according to a new study published in the Journal of Human Nutrition and Dietetics. Focusing on improving the quality of diet during early childhood may help reduce excess weight gain and support healthier eating habits…
Researchers discovered that patients with spinal muscular atrophy (SMA) of all ages had a higher all-cause mortality rate in the pretreatment era compared to age-matched controls, as published in Neurology and Therapy. “There is little information about survival of SMA patients into adulthood, and it is commonly accepted that patients with later-onset SMA, who often…
The Transient Receptor Potential (TRP) calcium channels TRPC1 and TRPC3 could be novel therapeutic targets for Duchenne muscular dystrophy (DMD), according to a new study by researchers from France. This idea is based on the fact that these 2 calcium channels seem to be involved in changes in sarcolemma permeability to calcium, which is an…
Parents of children with Duchenne muscular dystrophy (DMD) may have impaired sleep compared to parents of children without DMD, according to a new study published in Sleep Health. The researchers found that parents of children with DMD had worse sleep efficiency (mean, 84.47%) than parents of controls (mean, 87.79%; P =.048). The lower efficiency seen…
