Efficacy and Safety of Vamoralone over 48 weeks in Boys with Duchenne Muscular Dystrophy

This randomized, double-blind, placebo-controlled and prednisone-controlled clinical trial was conducted to determine the efficacy and safety of vamoroline over 48 weeks and to study crossover participants.

Two years of newborm screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina

A prosepctive study conducted in anticipation of the nomination of Duchenne Muscular Dystrophy for universal newborn screening.

Age-Related Blood Levels of Creatinine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms

Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. The objective of this study is investigate the relationship between age adn CK-MM in presumed healthy newborns to inform NBS algorithm designs.

Findings from the Longitudinal CINRG Becker Natural History Study

A 3-year, longitudinal, prospective dataset contributed by a cohort of 83 patients with confirmed Becker muscular dystrophy, ages 5-75 years at baseline, were analyzed to characterize the natural history of this disorder. A better understanding of the natural history is crucial to rigorous therapeutic trials.

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenial titinopathy

The objective of this case is to highlight the importance of reanalyzing genetic data and considering known variants to avoid delays in diagnosis.

Parental perspective of the episodic irritability in an ultra-rare genetic disorder associated with NACC1

This trial shows that a specific genetic change, NECFM caused by the recurrent variant c.982C>T, leads to episodes of severe irritability that is still not fully understood. Learning more about how this genetic change affects the body could help develop better treatments.

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt

This report outlines a case of neonatal-onset MUSK-related CMS in a patient harboring compound heterozygous deletions in the MUSK gene, including: a deletion of exons 2-3 leading to an in-frame MUSK protein lacking the immunogloubin domain, and a deletion of exons 7-11 leading to out-of-frame, truncated MUSK protein.

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders

Clinical and exome/ genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many remain undiagnosed. Here, two cases were described where a second where a second variant was found upon reanalysis of the exome data. A review of existing literature shows that this reanalysis step is often missed. This report reviews the importance of reanalyzing data in undiagnosed cases where upon initial testing, only one variant was found.

Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results from the Phase 2, Open-Label, 4- Year Extension Study

This phase 2, open-label, 192-week, long-term extension study evaluated the efficacy and safety of viltolarsen in participants aged 4 to <10 years at baseline with DMD amenable to exon 53 skipping. The results of this 4-year long-term extension show that vitolarsen can be an important treatment strategy for DMD patients amenable to exon 53 skipping.

Screening data from 19 patients with late-onset Pompe disease for a phase 1 clinical trial of AAV8 vector-mediated gene therapy

Screening data for a LOPD gene therapy trial provide insight into important considerations for enrollment criteria and serveillance of possible hepatitis. Among patients with LOPD screened for a phase I AAV gene therapy trial. 74% had no or minimal detectable pre-existing antibodies to the AAV vector.

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

The aim of this study is to evaluate clinical data, neuroradiological studies, genomic sequencing, and protein immunoblotting results in 8 children from 4 familieswho experienced acute febrile encephalopathy. Gemonic sequencing in children with unexplained acute febrile encephalopathy can detect underlying genetic etiologies, such as RNH1, and improve outcomes in the affected and at-risk siblings.

Phase 1 study of liver depot gene therapy in late-onset Pompe disease

This 52-week open-label, single-dose, dose-escalating study was designed to objectively assess the safety and bioactivity of ACTUS-101 in subjects diagnosed with Pompe disease, which is caused by a defect in GAA gene. ACTUS is intended to enable expression of a functional copy of the GAA gene in subjects hepatocytes.