G71.01 is, quite literally, code for Duchenne muscular dystrophy. Likewise, Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 others listed in the…
The loss of a key enzyme, called adenosine deaminase, in astrocytes — the energy-supporting cells of neurons — leads to a toxic accumulation of molecules that contributes to the death of motor neurons seen in amyotrophic lateral sclerosis (ALS), a study shows. The study, “Astrocyte adenosine deaminase loss increases…
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
Suppressing an enzyme known as MAP4K4 extended the survival of motor neurons collected from mice and patients with amyotrophic lateral sclerosis (ALS), and decreased the accumulation of toxic proteins associated with the disease, a study reports. These findings from the study, titled “MAP4K4 Activation Mediates Motor…
A “new voice” for people who cannot verbally communicate, such as those living with amyotrophic lateral sclerosis (ALS) or recovering from stroke, is a step closer to becoming reality. Researchers from the Zuckerman Institute at Columbia University have developed a computer algorithm that can recognize a person’s thoughts as…
An immune response triggered by T-cells contributed to the elimination of motor neurons in a mouse model of amyotrophic lateral sclerosis (ALS), a study shows. The study, “Cytotoxic CD8+ T lymphocytes expressing ALS-causing SOD1 mutant selectively trigger death of spinal motoneurons,” was published in PNAS. ALS is…
SIRION Biotech and Denali Therapeutics have signed a new licensing agreement to develop a new generation of adeno-associated virus (AAV) vectors, harmless viruses used as vehicles to deliver gene therapies, to allow therapies to reach into the central nervous system (CNS) of people with amyotrophic lateral sclerosis (ALS). The…
An upcoming webinar will focus on the novel approach to clinical trial design in the Modifying Immune Response and Outcomes in ALS (MIROCALS) trial, which aims to break the current impasse in therapy development for amyotrophic lateral sclerosis (ALS). During the webinar, P. Nigel Leigh, a motor neuron disease…
Tau and FUS proteins may contribute to a cellular process common to both amyotrophic lateral sclerosis (ALS) and dementia, a rare case suggests. The case was reported in a study, “Combined FUS+ Basophilic Inclusion Body Disease and Atypical Tauopathy Presenting with an ALS/MND‐plus Phenotype,” published…
MediciNova’s investigational therapy ibudilast (MN-166) combined with Rilutek (riluzole), for amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases, has been given final approval — a notice of allowance stating that its request for a patent is being considered by the U.S. Patent and Trademark Office. Receiving a notice of allowance is the final…
