BioWorld - Friday, February 6, 2026

Articles Tagged with ''spinal muscular atrophy''

Gene editing illustration
Drug Design, Drug Delivery & Technologies

Next-generation genome editing tools surpass CRISPR milestone

Dec. 28, 2023
By Anette Breindl and Mar de Miguel
Modifying a patient’s DNA is no longer just for science fiction novels. The CRISPR gene editing technique developed by Jennifer Doudna and Emmanuelle Charpentier only took 10 years to reach the market as Casgevy (exagamglogene autotemcel/exa-cel, Vertex Pharmaceuticals Inc.), treating congenital pathologies such as β-thalassemia and severe sickle cell disease (SCD). But science does not stop.
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Evrysdi

PTC sells Evrysdi royalties in deal potentially worth $1.5B

Oct. 19, 2023
By Karen Carey
Royalty monetization is a financing tactic that is becoming increasingly popular during challenging times, and PTC Therapeutics Inc. is the latest firm to leverage a marketed drug to pay off debt and fuel its development pipeline. The South Plainfield, N.J.-based company agreed to sell up to $1.5 billion of its Evrysdi (risdiplam) royalty stream to Royalty Pharma plc, of New York. Evrysdi is a survival motor neuron 2 RNA splicing modifier approved by the U.S. FDA in 2020 to treat spinal muscular atrophy.
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Neurology/Psychiatric

Novel 15-PGDH inhibitor improves muscle force in models of SMA and muscle atrophy

Oct. 11, 2023
It has been previously demonstrated that therapeutic inhibition of the prostaglandin E2 (PGE2)-degrading enzyme, 15-prostaglandin dehydrogenase (15-PGDH), was able to improve muscle strength in aged mice. Researchers from Epirium Bio Inc. have now reported the discovery and preclinical characterization an orally bioavailable small molecule inhibitor of 15-PGDH – MF-300 – being developed for the treatment of neuromuscular dysfunction.
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Illustration of prescription pill bottle with DNA on the label.
Neurology/Psychiatric

EAN 2023: Even after breakthroughs, gains need defending

July 4, 2023
By Anette Breindl
It seems unlikely that American poet and civil rights activist Maya Angelou spent much time thinking about translational research. But two quotes of hers capture the essence of the interplay between bench and bedside: “I did then what I knew how to do. Now that I know better, I do better” and “I’ve learned that I still have a lot to learn.” At the 2023 Annual Congress of the European Academy of Neurology, Mary Reilly described the relationship between bench and bedside as “a continuous circle of translation,” with each cycle beginning with patients and their needs.
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Degradation of motor neurons
Neurology/Psychiatric

Next-generation gene therapy shows superior efficacy for spinal muscular atrophy

May 25, 2023
Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene, which encodes survival motor neuron 1, leading to reduced protein expression levels and degeneration of motor neurons in the spinal cord, with the consequent muscle atrophy. There is thus a need for new AAV gene therapies for SMA that confer better safety and efficacy.
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Gene editing illustration

Base editing rescues spinal muscular atrophy in vivo

April 10, 2023
By Mar de Miguel
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy. Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique.
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Genetic/Congenital

Base editing rescues spinal muscular atrophy in vivo

April 6, 2023
By Mar de Miguel
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy (SMA). Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique. “This base editing approach to treating SMA should be applicable to all SMA patients, regardless of the specific mutation that caused their SMN1 loss,” the lead author David Liu, a professor and director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute of Harvard and MIT, told BioWorld.
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