Myology research highlights
RSS feedFirst-in-human phase I/IIa trial of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy
Intra-arterial transplantation of mesoangioblasts has been proven safe and partially efficacious in preclinical models of muscular dystrophy. This paper describes the first-in-human, exploratory, non-randomised open-label phase I-IIa clinical trial of intra-arterial HLA-matched donor cell transplantation in 5 Duchenne patients. Escalating doses of donor-derived mesoangioblasts were administered in limb arteries under immunosuppressive therapy (tacrolimus). Four … [Read more]
Identification of a new long dystrophin isoform, Dp412e
Duchenne muscular dystrophy (DMD) physiopathology is still not fully understood and a prenatal onset is suspected but difficult to address. Bone morphogenetic protein 4 (BMP4) is a critical signaling molecule involved in mesoderm commitment. Human induced pluripotent stem cells (hiPSCs) from DMD and healthy individuals and human embryonic stem cells (hESCs) treated with BMP4 were … [Read more]
Treatment with eteplirsen leads to a slower decline in disease progression over 3 years
This paper describes the results of continuous, three-year treatment of Duchenne muscular dystrophy (DMD) patients with eteplirsen, 30 nucleotide-long phosphorodiamidate morpholino oligomer (PMO) designed to skip DMD exon 51 in patients with DMD. Progression of eteplirsen-treated patients ≥7 years was compared to matched historical controls (HC). The primary functional assessment in this study was … [Read more]
A quantitative diagnostic tool for genetically distinct hereditary neuropathies
This study aimed to evaluate the nerve ultrasound characteristics in 31 patients with genetically distinct inherited neuropathies, the value of the modified ultrasound pattern sum score (mUPSS) to differentiate between the subtypes and the correlation of ultrasound with nerve conduction studies (NCS), disease duration and severity. All patients underwent a standardised neurological examination, ultrasound, and … [Read more]
Prevalence of anti-HMGCR antibodies in a large sample of Chinese IIM patients
This study aimed to detect the prevalence of anti-3-hydroxyl-3- methylglutaryl coenzyme A reductase (anti-HMGCR) antibodies in 405 Chinese patients with idiopathic inflammatory myopathies (IIMs), 90 healthy controls, and 221 patients with other rheumatic diseases. In addition, the clinical features of the antibody-positive IIM patients were analyzed. Long-term follow-up of the anti-HMGCR antibody-positive patients was conducted … [Read more]
Intraperitoneal injection of microencapsulated Sertoli cells restores muscle morphology and performance in dystrophic mice
Duchenne muscular dystrophy (DMD) is a genetic disease characterized by progressive muscle degeneration leading to impaired locomotion, respiratory failure and premature death. In DMD patients, inflammatory events secondary to dystrophin mutation play a major role in the progression of the pathology. Sertoli cells (SeC) have been largely used to protect xenogeneic engraftments or induce trophic … [Read more]
A phase I/IIa trial of intra-arterial infusions of HLA-matched donor MABs in DMD patients
Intra-arterial transplantation of mesoangioblasts (MABs) proved safe and partially efficacious in preclinical models of muscular dystrophy. This study reports the first-in-human, exploratory, non-randomized open-label phase I-IIa clinical trial of intra-arterial HLA-matched donor cell transplantation in 5 Duchenne patients. Escalating doses of donor-derived mesoangioblasts were administered in limb arteries under immunosuppressive therapy (tacrolimus). Four consecutive infusions … [Read more]
Fine-tuning the onset of myogenesis
Skeletal myogenesis in vertebrates is initiated at different sites of skeletal muscle formation during development, by activation of specific control elements of the myogenic regulatory genes. In the mouse embryo, Myf5 is the first myogenic determination gene to be expressed and its spatiotemporal regulation requires multiple enhancer sequences, extending over 120 kb upstream of the Mrf4-Myf5 … [Read more]
Protective effect of DMD genetic modifiers and dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. This study aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and … [Read more]
Burden of disease in children with myotonic dystrophy
The frequency and impact of symptoms experienced by patients with congenital, childhood, and juvenile-onset myotonic dystrophy (CDM/ChDM/JDM) has not been documented. This report identifies symptomatic areas with the greatest disease burden in an international population of patients with early-onset myotonic dystrophy type-1 (DM1). Surveys were distributed to parents of patients with CDM/ChDM/JDM. Patients with CDM/ChDM/JDM … [Read more]
