The Muscular Dystrophy Association (MDA) has asked the medical data services company IQVIA to expand its disease registry into a hub of information on seven neuromuscular conditions, including spinal muscular dystrophy (SMA). The repository will include disease information from care providers, genetics data, and patient-reported information. In addition to SMA, the…
The National Network for Excellence in Neuroscience Clinical Trials is accelerating the clinical trial process for neurological diseases like spinal muscular atrophy with the expectation of bringing medications to market in less time, with fewer costs and less risks. Clinical studies for neurological diseases are typically long and arduous, taking many years and a lot of money to complete. As such, developing medications to treat these conditions also is long and expensive. With funding from the National Institutes of Health , and leadership from the University of Iowa, NeuroNEXT is a consortium that brings together 25 academic healthcare research institutions nationwide to facilitate and diminish costs associated with clinical trials for neurological diseases. The consortium is designed to facilitate patient recruitment, help control quality and methodological standardization across studies and to assist data-gathering in the most efficient and cost-effective way possible, which already facilitates cross-referencing and comparability of results. The consortium was funded in 2011, but results of its first trial weren't published until December 2017, in Annals of Neurology, which is a large time gap that illustrates just how much time it can take to study neurological diseases. The two-year study, “Natural history of infantile-onset spinal muscular atrophy,” led by researchers at the Ohio State University observed biomarkers that indicate infantile-onset SMA. The trial involved researchers at 15 NeuroNEXT sites and the data collected were used to inform the U.S. Food and Drug Administration (FDA) application for the approval of Spinraza (nusinersen). Looking at the natural history of 26 SMA infants and 27 controls, the data delineated meaningful change in clinical trials in infantile-onset SMA, demonstrating the power and utility of NeuroNEXT to provide “real-world,” prospective natural history data sets and accelerate public and private drug development programs for rare diseases. The gene therapy AVXS-101, being developed by AveXis for SMA, is currently in clinical trials and soon may be available, too. Ultimately the goal is to encourage more clinical trials in neurological disorders, see those trials through to completion, and ascertain if there is enough promise to go forward in drug development. NeuroNEXT focuses exclusively on Phase 2 studies, which means researchers are not looking for a definitive answer to whether a treatment is effective, but are instead seeking to learn more about a potential treatment to decide whether there is enough evidence to justify the cost and complexity of a larger, more definitive Phase 3 trial.
It’s known that children with spinal muscular atrophy (SMA) have a number of breathing issues, which are caused by weakened chest muscles. These are the most common respiratory problems for children with SMA. MORE: Seven pieces of respiratory equipment needed for a child with SMA Lung underdevelopment Usually, children’s lungs grow and develop…
While most people don’t even think about breathing and how the human body does it, individuals with spinal muscular atrophy (SMA) don’t have that luxury. The normal way the respiratory system functions is fairly simple: according to the SMA Foundation, the intercostal muscles (the ones that exist between the ribs) help the ribcage expand so when the lungs inflate they have…
We know dealing with spinal muscular atrophy (SMA) sometimes feels like an uphill battle, both for the patients and the caregivers. You feel like you’re not doing enough or as if the disease is taking up all your time and attention. To help you on your journey, we’ve gathered a few…
There are quite a few books by experts and SMA advocates that help guide caregivers and through patients through the neuromuscular disorder. One of the top-rated books is the Family Guide to the Consensus Statement for Standard of Care in Spinal Muscular Atrophy, which was created to help the families…
Alberto Kornblihtt, PhD, professor and group leader at the Universidad de Buenos Aires in Argentina, has been awarded a $140,000 grant for a project examining genetic changes that affect how much SMN protein is produced from the SMN2 gene. The study may greatly impact the spinal muscular atrophy (SMA)…
The nonprofit advocacy group Cure SMA has awarded Christine DiDonato a $140,000 grant to study how specific proteins reduce force production and endurance in muscles affected by spinal muscular atrophy (SMA). SMA is a childhood disease that occurs in one of 10,000 births. It is characterized by degeneration of the motor neurons in…
Cytokinetics has begun enrolling a second group of patients for a Phase 2 clinical trial of CK-2127107 as a treatment for spinal muscular atrophy (SMA). The announcement follows an independent Data Monitoring Committee’s review of the therapy’s safety, absorption, distribution, metabolism, and excretion in Cohort 1. The randomized, double-blind, placebo-controlled,…
Cytokinetics’ next-generation fast skeletal troponin activator CK-2127107 improves muscle function in mouse models of spinal muscular atrophy (SMA), according to a preclinical trial study. The findings were presented at the MDA Scientific Conference in Arlington, Virginia. Cytokinetics and Astellas Pharma are developing CK-2127107 (CK-107) as a treatment for SMA and…