Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
[HTML][HTML] Antisense Oligonucleotides for the Study and Treatment of ALS
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …
[HTML][HTML] Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
Background The intrathecally administered antisense oligonucleotide tofersen reduces
synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with …
synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with …
Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
Background Tofersen is an antisense oligonucleotide that mediates the degradation of
superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis …
superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis …
[HTML][HTML] Design of a randomized, placebo-controlled, phase 3 trial of tofersen initiated in clinically presymptomatic SOD1 variant carriers: the ATLAS study
M Benatar, J Wuu, PM Andersen, RC Bucelli… - …, 2022 - Elsevier
Despite extensive research, amyotrophic lateral sclerosis (ALS) remains a progressive and
invariably fatal neurodegenerative disease. Limited knowledge of the underlying causes of …
invariably fatal neurodegenerative disease. Limited knowledge of the underlying causes of …
Use of real‐world evidence to drive drug development strategy and inform clinical trial design
Interest in real‐world data (RWD) and real‐world evidence (RWE) to expedite and enrich the
development of new biopharmaceutical products has proliferated in recent years, spurred by …
development of new biopharmaceutical products has proliferated in recent years, spurred by …
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some
of which are associated with a distinct phenotype. Most studies assess limited variants or …
of which are associated with a distinct phenotype. Most studies assess limited variants or …
Superoxide dismutase 1 in health and disease: how a frontline antioxidant becomes neurotoxic
Cu/Zn superoxide dismutase (SOD1) is a frontline antioxidant enzyme catalysing superoxide
breakdown and is important for most forms of eukaryotic life. The evolution of aerobic …
breakdown and is important for most forms of eukaryotic life. The evolution of aerobic …
Antisense drugs make sense for neurological diseases
CF Bennett, HB Kordasiewicz… - Annual review of …, 2021 - annualreviews.org
The genetic basis for most inherited neurodegenerative diseases has been identified, yet
there are limited disease-modifying therapies for these patients. A new class of drugs …
there are limited disease-modifying therapies for these patients. A new class of drugs …
Biomarkers in motor neuron disease: a state of the art review
NS Verber, SR Shepheard, M Sassani… - Frontiers in …, 2019 - frontiersin.org
Motor neuron disease can be viewed as an umbrella term describing a heterogeneous
group of conditions, all of which are relentlessly progressive and ultimately fatal. The …
group of conditions, all of which are relentlessly progressive and ultimately fatal. The …