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129th General Meeting of Korean Chemical Society & Exposition Spinal Muscular Atrophy: advancing small molecule splicing modulators from phenotypic screen to clinic

Submission Date :
2 / 28 / 2022 , 14 : 14 : 56
Abstract Number :
Presenting Type:
Presenting Area :
Medicinal Chemistry - Recent Trends and Advances in Small Molecule Drug Discovery (FEBPS session)
Authors :
Moo Je Sung
Global Discovery Chemistry, Novartis, United States
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overseas affiliation in a few days.
Approved : 1 case
Assigned Code :
MEDI2-1 Assigend Code Guideline
Presenting Time :
FRI, 09 : 00
Spinal muscular atrophy (SMA) is a debilitating genetic neurodegenerative disease and is the leading genetic cause of pediatric mortality. SMA is characterized by progressive degeneration of motor neurons, muscle wasting, paralysis, and in severe cases death. SMA is caused by the loss of the survival motor neuron 1 (SMN1) gene. A compensatory gene called SMN2 includes a single nucleotide mutation in SMN2 leading to a predominantly mis-spliced RNA transcript and an unstable truncated SMN protein which is rapidly degraded, leading to relative deficiency of SMN protein and causing disease. Several treatment modalities are currently in clinical development including gene therapy, ASO (anti-sense oligonucleotides) and small molecule SMN splicing modulators. The small molecule SMN2 splice modulator NVS-SM1/LMI070 has been found to elevate levels of full length SMN protein and extend survival in the SMN-delta-7 mouse model, and the compound is currently in Phase I/II clinical trials.