Blog Archives
Induced pluripotent stem cells functionally regenerate both cardiac and skeletal muscle
Conditions such as muscular dystrophies (MDs) that affect both cardiac and skeletal muscles would benefit from therapeutic strategies that enable regeneration of both of these striated muscle types. Protocols have been developed to promote induced pluripotent stem cells (iPSCs) to differentiate toward cardiac or skeletal muscle; however, there are currently no strategies to simultaneously … [Read more]
Muscular and extramuscular effects of rituximab in patients with refractory anti-synthetase syndrome
Anti-synthetase syndrome (anti-SS) is frequently associated with myositis and interstitial lung disease (ILD). Here, the authors evaluated prospectively, in a multicenter, open-label, phase II study, the efficacy of rituximab on muscle and lung outcomes. The primary endpoint was muscular improvement based on manual muscular testing (MMT10, Kendall score in 10 muscles) at M12. Secondary … [Read more]
Jagged 1: a new therapeutic target for DMD?
The absence of dystrophin in muscle results in dysregulation of signaling pathways, which could be targets for disease therapy and drug discovery. The authors of the present study have previously identified two exceptional Golden Retriever muscular dystrophy (GRMD) dogs that are mildly affected, have functional muscle, and normal lifespan despite the complete absence of … [Read more]
First-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]
Telethon fundraising event 2015 : 80 251 183 euros. THANK YOU!
At the end of a 30-hour TV show marathon, the Telethon counter displays an extraordinary result of 80 251 183 euros. This outstanding outcome shows the support from millions of French citizens to the Telethon fight against rare diseases, including from London, New-York, Budapest…A strong visual symbol remains the enlightened Towers of different cities all … [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]
