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October 15, 2020Scientific ReportsOpen Access

Discovery of a CNS penetrant small molecule SMN2 splicing modulator with improved tolerability for spinal muscular atrophy

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Key result

TEC-1 selectively modulated SMN2 splicing over secondary targets like FOXM1 and significantly ameliorated the disease phenotype, including enhanced survival, in an SMA murine model.

Why the study?

Existing small-molecule SMN2 splicing modulators for spinal muscular atrophy modulate secondary splice targets including FOXM1, highlighting the need for selective modulators with improved tolerability.

Does the novel small molecule TEC-1 selectively modulate SMN2 splicing and improve disease phenotypes in SMA models with better tolerability than existing modulators?

Population

SMA patient-derived fibroblasts and an SMA murine model

Comparison

TEC-1 vs risdiplam, SMN-C3, or control

Design

Preclinical in vitro and in vivo study

Authors

SAShiori AndoSSShunya SuzukiSOShoichi Okubo

Discussion

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Member takes

Overview

TEC-1 merits clinical translation studies in SMA; leaves open whether selectivity improves tolerability over existing modulators.

Structured PICO

Does the novel small molecule TEC-1 selectively modulate SMN2 splicing and improve disease phenotypes in SMA models with better tolerability than existing modulators?

P
Population
Preclinical study evaluating the efficacy and tolerability of TEC-1 in SMA patient-derived cells and a murine model of SMA.
I
Intervention
TEC-1 (a small-molecule SMN2 splicing modulator) administered in vitro at various concentrations and in vivo (2, 6, and 20 mg/kg once daily intraperitoneally from postnatal day 2 to 23, then orally).
C
Comparator
Vehicle control (in vivo), DMSO (in vitro), and active comparators risdiplam and SMN-C3.
O
Outcome
SMN2 splicing modulation (FL-SMN2 mRNA levels), selectivity over secondary splice targets (FOXM1, GALC, HTT), micronucleus formation, and in vivo survival and motor function (righting reflex).surrogate

TEC-1 is a novel, CNS-penetrant SMN2 splicing modulator that improves survival and motor function in an SMA mouse model while avoiding the off-target splicing effects and genotoxicity associated with existing therapies like risdiplam.

Limitations

  • The drug-metabolizing enzyme of TEC-1 has not yet been identified.
  • Further research is required to characterize the molecular target or binding site of TEC-1.
  • Oral bioavailability needs improvement through new formulation technologies.

Cite This Study

Ando et al. (2020) studied Spinal muscular atrophy (SMA). TEC-1 vs. Vehicle, SMN-C3, risdiplam was evaluated on Survival and motor function in SMNΔ7 mice, and SMN2 splicing modulation in vitro. TEC-1 selectively modulated SMN2 splicing over secondary targets like FOXM1 and significantly ameliorated the disease phenotype, including enhanced survival, in an SMA murine model.

synapsesocial.com/papers/6a9715f80f79e4f014b3207dhttps://doi.org/10.1038/s41598-020-74346-9
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1New Directions for SMA Therapy2018 · 37 citations
  2. 2Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability2015 · 59 citations
  3. 3Highly efficient generation of glutamatergic/cholinergic NT2-derived postmitotic human neurons by short-term treatment with the nucleoside analogue cytosine β- d -arabinofuranoside2016 · 12 citations
  4. 4A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier2018 · 104 citations
  5. 5Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers2017 · 227 citations