Latest Research

A SMART Approach to SMA Research!

Special Press release from CureSMA

Infants with rare cases of SMA get stronger, live longer on Isis drug.  

The infants and young children who suffer from rare cases of spinal muscular atrophy, or SMA, don’t live long. Defects in the survival motor neuron 1 gene, a key player in promoting neuromuscular growth, cause them to grow progressively weaker and suffer from a series of harsh events ending in a very early death.

But Isis Pharmaceuticals ($ISIS) says that the latest update on the infants enrolled in their mid-stage program for ISIS-SMNrx shows that toddlers with the most severe form of the disease have been getting progressively stronger and living longer while taking this drug.

Nineteen infants with Type 1 SMA who were evaluable in the single-arm study were given either a 6-mg or 12-mg dose of the therapy, says Isis CEO Stan Crooke. The median event-free age of four patients in the 6-mg arm jumped from 16.3 months to 19.9 months and from 11.6 months to 16.7 months in the 12-mg arm. Seven infants in the original group of patients saw their median event-free age increase from 9.6 months on April 7, 2014 to 21.4 months on April 17, 2015. And executives for the company say that there have been no events over the last two months to report as well. read more…


Cure SMA Announces New $140,000 Basic Research Grant to Chad Heatwole, MD, at the University of Rochester

By Cure SMA | Published On March 20, 2015

Cure SMA has awarded a $140,000 research grant to Chad Heatwole, MD, at the University of Rochester for his project, “Development of a Clinically Relevant Outcome Measure for SMA Therapeutic Trials.”

As more spinal muscular atrophy drug programs progress to clinical trials, it becomes critically important to develop ways of accurately measuring whether or not the treatment is successful. These “outcome measures” must be developed for individuals of all different types, ages, and severity of SMA.


Dr. Heatwole’s project will focus on developing a reliable method for adults with SMA to report on clinical trial outcomes that are important to them. Along with this grant to Dr. Heatwole, our current round of funding includes a previously announced grant to Dr. Linda Lowes, who is studying outcome measures in infants with SMA type I. Our goal in supporting these different projects is to ensure that well-designed trials can be conducted in all SMA populations.


This project is supported by funding from The Spinal Muscular Atrophy Research Team (SMART), Buffalo, NY



October 10, 2014 – Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) provided an update on its ongoing open-label Phase 2 clinical studies of ISIS-SMNRx in infants and children with spinal muscular atrophy (SMA) at the 19th International World Muscle Society (WMS) Congress in Berlin, Germany. They have observed impressively consistent increases in muscle function scores across different SMA patient populations, including both children and infants with SMA, which supports their movement in pivotal Phase 3 clinical trials to support potential registration to make this exciting new drug more broadly available to patients with SMA.



 Promising Results Published on Cure SMA-Funded Gene Therapy Project

November 5, 2014 – “Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA—a dose response study in mice and nonhuman primates” was recently published in the journal Molecular Therapy and is the first one resulting from a groundbreaking collaboration between Cure SMA, the National Institute of Neurological Disorders and Stroke (NINDS), and Dr. Brian Kaspar of Nationwide Children’s Hospital. SMART’s own Tim Reilly is on the Cure SMA Advisory Committee that has funded and overseen progress on this groundbreaking project.




Trophos Presents Pivotal Phase II/III Study Results on Olesoxime in Spinal Muscular Atrophy at The American Academy of Neurology Meeting

April 29, 2014 –

The 66th American Academy of Neurology (AAN) Meeting was held in April in Philadelphia with over 10,000 neurologists are in attendance. Trophos presented late breaking positive data on their pivotal phase II/III trial on olesoxime in Spinal Muscular Atrophy.



Tirasemtiv Demonstrates Improvements in Muscle Force, Grip Strength and Resistance to Fatigue in Preclinical Mouse Models of Spinal Muscular Atrophy

June 26, 2014 –

Cytokinetics announced that data from preclinical research relating to tirasemtiv in mouse models of spinal muscular atrophy (SMA) were presented at the 2014 Annual Spinal Muscular Atrophy Conference in National Harbor, Maryland. In these models, tirasemtiv increased muscle force and improved grip strength, grid hang time, and resistance to fatigue. These studies were supported in part by a grant from the Cure SMA.


Isis Begins Phase III Clinical Trial

August 1, 2014 –

Isis Pharmaceuticals, Inc. announced the initiation of a pivotal Phase III study evaluating ISIS-SMNRx in infants with spinal muscular atrophy (SMA). The Phase III study, ENDEAR, is the first of several planned studies in a broad and comprehensive late-stage clinical development program for SMA.



Spinal Muscular Atrophy Mice Model Results Published in the Journal Science

August 7, 2014 –

The journal Science published results of a preclinical study demonstrating that treatment with orally available RNA splicing modifiers of the SMN2 gene starting early after birth prevents deficits in a mouse model of SMA.



Gene therapy extends survival in an animal model of spinal muscular atrophy

Passini et al “Translational Fidelity of Intrathecal Delivery of Self-Complementary AAV9–Survival Motor Neuron 1 for Spinal Muscular Atrophy.”

“This is a very promising and thorough set of preclinical studies that supports rapid translation to the clinic,” says James M. Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy, and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.