Gene therapy delivered to muscles reaches nerve cells; collaboration aims to advance gene therapy development program; a mouse model represents milder forms of the disease
Spinal muscular atrophy (SMA) is a disease in which nerve cells that control muscles (motor neurons) in the spinal cord die, causing progressive weakness in the voluntary muscles. Recent research news includes advances in delivery methods for gene therapy treatment of SMA, and creation of a new mouse model that could help scientists better understand and develop treatments for the disease....
Isis Pharmaceuticals has launched a trial to test multiple doses of its experimental antisense drug ISIS-SMNRx in 24 children with SMA at four US centers
Update (Nov. 22, 2013): In a Nov. 22, 2013, press release, Isis Pharmaceuticals announced it would investigate a higher dose of ISIS-SMNRx in children with SMA than originally planned. It will add a 12-milligram cohort to the ongoing phase 1b/2a study.
Isis Pharmaceuticals will test its experimental antisense drug in 24 children with spinal muscular atrophy at five U.S. centers
A 24-person, phase 1 trial to test the safety and tolerability of the experimental drug ISIS-SMNRx in children with spinal muscular atrophy (SMA) is now open at Columbia University Medical Center in New York, with additional sites expected to open in Boston, Philadelphia, Dallas and Salt Lake City.
Mice with a severe SMA-like disease that were injected with a synthetic "antisense" molecule developed bigger, more structurally sound muscles than untreated mice
A team of research scientists has found that mice with a disease resembling a severe form of spinal muscular atrophy (SMA) that were treated with a gene-modifying molecule produced more of a needed protein throughout their spinal cords; developed bigger, stronger muscles; and survived longer than expected.
Preserving a shortened version of the SMN protein rescued SMN-deficient cells, opening the door to a possible new therapeutic strategy
A research team at the University of Pennsylvania in Philadelphia has characterized the mechanism responsible for rapid decay of the survival of motor neurons (SMN) protein that is encoded by the human SMN2 gene and which plays a key role in a variety of therapeutic strategies under development for spinal muscular atrophy (SMA).
Researchers have identified a compound that helps cells produce more full-length SMN protein from the backup SMN2 gene.
Scientists have identified a chemical cousin of the commonly used antibiotic tetracycline that has the potential to be refined and modified into a therapy for spinal muscular atrophy (SMA).
PTK-SMA1 works by correcting an error in a cellular process called RNA splicing, and leads to increased production of a critical protein that is deficient in this disease.
A variant in the SMN2 gene leads to more full-length SMN protein and better function
Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.