Blog Archives

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with few therapeutic options. Mild obesity is associated with greater survival in patients with the disease, and calorie-dense diets increased survival in a mouse model. The authors aimed to assess the safety and tolerability of two hypercaloric diets in patients with amyotrophic lateral sclerosis receiving enteral … [Read more]

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the … [Read more]

A study to track the natural history and functional capabilities of patients with myotubular myopathy (MTM), a form of centronuclear myopathy (CNM), is recruiting approximately 60 patients of any age (including newborns). There are three North American study sites, Boston, Bethesda, Md., Toronto, and a site in Paris.The investigators will follow study participants for three … [Read more]

Ca2+ is a major regulatory and signaling molecule in skeletal muscle, therefore the cellular Ca2+ dynamics need to be tightly regulated. Ca2+ stores are refilled through a process called store-operated Ca2+ entry (SOCE). Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth and differentiation, and Ca2+ … [Read more]

Duchenne muscular dystrophy (DMD) is the most common lethal muscle disorder of children. It is caused by mutations of the dystrophin gene. Adeno-associated virus (AAV)-mediated gene replacement therapy has been actively pursued to treat DMD. However, this promising therapeutic modality has been challenged by the small packaging capacity of the AAV vector. The size of … [Read more]

In this study, the authors conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty-eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was … [Read more]

In this cross-sectional cohort study, the autors describe the frequency, nature, severity, and progression of cardiac abnormalities in Dutch sarcoglycanopathy patients, who were interviewed using a standardized questionnaire and assigned a functional score. Electrocardiograpy (ECG), echocardiography, and 24-hour electrocardiography were performed. Twenty-four patients with sarcoglycanopathy had a median age of 25 years (range 8-59 years). … [Read more]

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in SMN1. The authors have previously demonstrated that CNS delivery of an AAV vector encoding SMN1 produced significant improvements in survival in a mouse model of SMA. Here, they performed a dose response study in SMA mice to determine the levels of SMN in … [Read more]

In this study, the authors aimed to evaluate the ability of four clinical methods to reflect arm and hand function at impairment and activity level and to determine their ability to discriminate among SMA II patients of all ages and in all stages of the disease. Fifty-two patients with SMA II (age range: 8-73 years) … [Read more]

 This 1st call for proposals launched by the  French Foundation for  rare  diseases  aims  to  directly support intermediary key  steps towards  clinical  development for patient.The objective is to support pilot scientific projects at the interface between the in vivo proofs of principle, usually in rodents, and the development of a clinical application in human patients.Submission deadline … [Read more]