Dec 11, 2017
Drug for spinal muscular atrophy prompts ethical dilemmas
First drug for people with spinal muscular atrophy gives hope for improving the lives of patients with the rare disease, but the extraordinary cost of the drug and complicated logistics of delivering it present barriers for many patients.
Sep 26, 2017
Restoring breathing capacity in Duchenne muscular dystrophy by activating the brain
Enhancing breathing via the brain may limit deficiencies in respiratory capacity in Duchenne muscular dystrophy patients.
Jul 14, 2017
Patients receiving eculizumab at high risk for invasive meningococcal disease despite vaccination
Some patients receiving eculizumab who were vaccinated with the recommended meningococcal vaccines still developed meningococcal disease. Of important note, eculizumab is currently under US FDA review as potential treatment for patients with generalized myasthenia gravis who are AChR antibody-positive.
Jun 28, 2017
Designed proteins to treat muscular dystrophy
In an animal mode of congenital muscular dystrophy researchers demonstrated for the first time that 2 proteins not only recover muscle force and increase body weight in the sick animals but also significantly prolong survival.The study findings are published in Science Translational Medicine.
Jun 19, 2017
A diagnostic test for ALS
Researchers have demonstrated that measuring neurofilaments provides reliable confirmation of an ALS diagnosis. Specifically, they have discovered that pNfH (phosphorylated neurofilament heavy) increases sharply in the lumbar fluid of ALS patients.
Feb 20, 2017
Mercury in fish, seafood may be linked to higher risk of amyotrophic lateral sclerosis
Eating fish and seafood with higher levels of mercury may be linked to a higher risk of amyotrophic lateral sclerosis (ALS), according to a preliminary study released today that will be presented at the American Academy of Neurology's 69th Annual Meeting. However, fish and seafood consumption as a regular part of the diet was not associated with ALS.
Feb 14, 2017
Children of patients with C9orf72 mutations at greater risk of frontotemporal dementia / ALS
Researchers have demonstrated that if an affected parent passes on the C9orf72 mutation, the children will be affected at a younger age than the parent. There are no indications that the disease progresses more quickly. These results are published today in JAMA Neurology.
Jan 26, 2017
Gene therapy for Pompe disease effective in mice, poised for human trials
After decades investigating Pompe disease, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients. The therapy uses a modified virus to deliver a gene to the liver where it produces GAA.
Jan 09, 2017
Experiments in mice may help boost newly FDA-approved therapy for spinal muscular atrophy
A new biological target for treating spinal muscular atrophy has been identified. An article in Neuron reports an experimental medicine aimed at this target works as a "booster" in conjunction with a drug called Nusinersen that was recently FDA-approved to improve symptoms of the disorder in mice.
Nov 08, 2016
Collapse of mitochondria-associated membrane in ALS
A research team found that collapse of the mitochondria-associated membrane is a common pathological hallmark to 2 distinct inherited forms of amyotrophic lateral sclerosis (ALS): SOD1- and SIGMAR1- linked ALS. The research findings were reported in EMBO Molecular Medicine.