SMA Research Platform

Evidence graph for Spinal Muscular Atrophy

Biology-first target discovery
Christian Fischer / Bryzant Labs
14,766Targets
453Trials
84Drugs
7Datasets
6,987Sources
64,683Claims
72,052Evidence
29,649Hypotheses
DRUGapprovedsplice modifier

risdiplam

Brand names: Evrysdi

Mechanism

Small molecule SMN2 splicing modifier. Promotes exon 7 inclusion. Oral, crosses BBB.

Approved indications

type1type2type3

Structure

CC1=CC(=NN2C1=NC(=C2)C)C3=CC(=O)N4C=C(C=CC4=N3)N5CCNC6(C5)CC6
2D structure of risdiplam
PubChem CID 118513932

Related claims (50)

TypePredicateConfSource
motor functionThe CHOPINTEND score increased by 2.7 points/month (95%CI 2.1 to 3.3, p < 0.001) in SMA patients with 2 copies of survival motor neuron 2 gene receiving risdiplam (clinical trial result).69%40745614
biomarkerSMN protein is an appropriate biomarker for monitoring and evaluating the efficacy of risdiplam treatment in SMA.65%40795449
splicing eventA low-dose treatment of Anti-N1 with either risdiplam or branaplam produces a synergistic effect on the inclusion of SMN2 exon 7 in SMA patient fibroblasts (demonstrated in vitro).65%38379891
drug efficacyRisdiplam treatment showed statistically significant improvements in the 32-item Motor Function Measure (MFM32) (clinical trial result)65%37891788
drug efficacyRisdiplam treatment shows clinical improvements in SMA type I patient with only one SMN2 copy.65%38520738
drug efficacyRisdiplam treatment was associated with improvement in the EK2 (p = .009) in adult SMA patients (clinical trial result).65%36382958
splicing eventEvrysdi™ (risdiplam) promotes exon 7 inclusion to generate full-length SMN2 mRNA (mechanism unspecified).65%34368854
motor functionThe CHOPINTEND score increased by 2.7 points/month (95%CI 2.4 to 3.0, p < 0.001) in SMA children with type 1 receiving risdiplam (clinical trial result).64%40745614
motor functionThe CHOPINTEND score increased by 1.8 points/month (95%CI 0.8 to 2.9, p = 0.001) in SMA children with short disease duration before risdiplam treatment (clinical trial result).64%40745614
drug efficacyAfter 12 months of treatment with risdiplam, 57% of participants with SMA1 achieved a CHOP-INTEND score ≥ 40 points (clinical trial result).64%37574770
motor functionOf the children whose motor function was assessed with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and/or the Hammersmith Functional Motor Scale - Expanded after risdiplam initiation, nearly all (n = 12/13...60%40624473
safetyDiverging patterns in adverse reaction reporting suggest a stabilizing safety profile for nusinersen and potential emerging safety signals for risdiplam and onasemnogene abeparvovec.59%41149786
safetyRisdiplam was generally well tolerated, with predominantly mild and non-specific adverse events reported in 14.0% of patients (observed in patient cohort).59%41181835
motor functionRisdiplam resulted in a significant improvement in motor function compared with placebo in patients aged 2-25 years with type 2 or non-ambulant type 3 spinal muscular atrophy (clinical trial result).59%34942136
drug efficacyRisdiplam treatment resulted in remarkable improvement in motor function (case report).59%39093767
motor functionNusinersen and risdiplam showed improvements in motor function and milestones (clinical trial result).59%41350238
motor functionRisdiplam resulted in improvement or stabilization in motor functions (observed in patient cohort).59%39568039
splicing eventTherapeutic approaches that have been undertaken include correction of the aberrant SMN2 splicing using an antisense oligonucleotide (ASO) or small molecule (nusinersin, risdiplam).59%32056234
splicing eventRisdiplam acts as a <i>survival motor neuron 2</i> (<i>SMN2</i>) pre-mRNA splicing modifier.59%35316106
splicing eventRisdiplam modulates pre-mRNA splicing of SMN2 to increase SMN protein levels.59%W3174394828
drug efficacyRisdiplam reduced steatosis by 65.9% in SMA patient-derived iHeps (demonstrated in vitro)59%41567114
motor functionAfter risdiplam initiation, six (30%) children had improvements in respiratory function (observed in patient cohort)59%40624473
drug efficacyRisdiplam is an efficacious treatment for persons with symptomatic spinal muscular atrophy (SMA).59%40802943
splicing eventRisdiplam is an RNA splicing modifier that modifies pre-mRNA splicing of the SMN2 gene, thereby promoting the production of functional survival motor neuron protein (SMN-fl).59%40265545
drug efficacyNusinersen combined with risdiplam demonstrates efficacy in the treatment of SMA (clinical trial result).59%40241365
motor functionRisdiplam demonstrated a noticeable improvement in Hammersmith functional motor scale expanded (HFMSE) score in 13 SMA patients at the last follow-up compared with baseline (clinical trial result).59%40745614
motor functionIn this first matched-pair comparison of nusinersen and risdiplam in adults with SMA, both treatments achieved similar stabilization of motor function over almost three years (clinical trial result).59%41484582
motor functionChildren treated with risdiplam also had a 45% higher rate of achieving a Hammersmith Infant Neurological Examination, Module 2 motor milestone response compared with children treated with nusinersen (clinical trial result).59%38705943
gene expressionRisdiplam increases levels of functional SMN protein (clinical trial result).59%33626251
survivalRisdiplam showed a survival rate of 86% [95% CI: 76, 94] (clinical trial result).59%39604484
motor functionMotor function improvements were consistent with nusinersen and risdiplam (clinical trial result).59%41350238
drug efficacyThe treatment of SMA with nusinersen, onasemnogene abeparvovec, and risdiplam changes the disease phenotype with changes in motor function far exceeding any improvement in respiratory and nutritional function (clinical trial result).59%38905882
drug efficacyTwo patients were the first presymptomatic patients with two copies of <i>SMN2</i> to receive treatment with Risdiplam in Spain.59%39846593
safetyChildren with type 1 SMA treated with risdiplam had a 57% reduction in the rate of serious adverse events compared with children treated with nusinersen (clinical trial result).59%38705943
drug efficacyTwo therapies that alter splicing of the Survival Motor Neuron 2 (SMN2) gene, i.e. nusinersen and risdiplam, improve motor function in SMA.59%37095427
drug targetThe PBPK analysis suggests that primary CYP3A inhibition by risdiplam occurs in the intestine rather than the liver.59%34347881
drug efficacyIn SMA2/3, RULM increased by 1.73 points after treatment with risdiplam (clinical trial result).59%37574770
splicing eventRisdiplam modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN.59%34942136
drug efficacyNusinersen and risdiplam treatment showed clinically meaningful improvement in motor function (clinical trial result)59%37891788
motor functionIndirect comparison results found improved motor function with risdiplam versus nusinersen (clinical trial result)59%35040693
splicing eventBoth Risdiplam and Branaplam triggered massive perturbations of splicing events, inducing off-target exon inclusion, exon skipping, intron retention, intron removal and alternative splice site usage (observed in SMA patient cells).59%37026480
splicing eventRisdiplam modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene.59%36244364
motor functionRisdiplam improves motor neuron function in patients with spinal muscular atrophy (SMA).59%34347881
splicing eventRisdiplam is an oral splicing modifier for the survival motor neuron-2 gene (SMN2).59%40782291
drug efficacyTreatment with nusinersen or risdiplam resulted in reduction of the number of patients with hypokalaemia (observed in patient cohort).59%41540943
splicing eventRisdiplam is an orally administered, small-molecule SMN2 pre-mRNA splicing modifier.59%30519476
motor functionRisdiplam over 24 months resulted in further improvement or stabilization in motor function (clinical trial result).59%36735057
gene expressionRisdiplam increases levels of functional SMN protein in blood (clinical trial result).59%34320287
motor functionTreatment with risdiplam over 24 months resulted in continual improvements in motor function (clinical trial result).59%36244364
drug efficacyExpedited therapy initiation, including reversible treatments like nusinersen or risdiplam, is recommended without waiting for the completion of the molecular testing, thus minimizing delays in crucial therapeutic interventions.59%40900970

Off-Target Findings (244)

T1: 2T3: 221untiered: 21
TargetRoleTierBoltz-2 iPTMChai-1 iPTMVerdict
KCNA2ion_channelSMAT10.455Primary SMA hit
SCN5Aion_channelSMAT10.406Primary SMA hit
S1PR5gpcrOFF-TARGETT30.983Selectivity flag (off-target substrate)
GPR42gpcrOFF-TARGETT30.982Selectivity flag (off-target substrate)
FFAR3gpcrOFF-TARGETT30.979Selectivity flag (off-target substrate)
LTB4R2gpcrOFF-TARGETT30.970Selectivity flag (off-target substrate)
ADORA1gpcrOFF-TARGETT30.962Selectivity flag (off-target substrate)
GPR18gpcrOFF-TARGETT30.959Selectivity flag (off-target substrate)
CCKBRgpcrOFF-TARGETT30.958Selectivity flag (off-target substrate)
TACR2gpcrOFF-TARGETT30.957Selectivity flag (off-target substrate)
FPR2gpcrOFF-TARGETT30.957Selectivity flag (off-target substrate)
HRH2gpcrOFF-TARGETT30.953Selectivity flag (off-target substrate)
ACKR3gpcrOFF-TARGETT30.951Selectivity flag (off-target substrate)
P2RY6gpcrOFF-TARGETT30.949Selectivity flag (off-target substrate)
TAAR5gpcrOFF-TARGETT30.948Selectivity flag (off-target substrate)
TACR3gpcrOFF-TARGETT30.947Selectivity flag (off-target substrate)
MCHR1gpcrOFF-TARGETT30.947Selectivity flag (off-target substrate)
TBXA2RgpcrOFF-TARGETT30.944Selectivity flag (off-target substrate)
AURKCkinaseOFF-TARGETT30.943Selectivity flag (off-target substrate)
P2RY2gpcrOFF-TARGETT30.940Selectivity flag (off-target substrate)
MRGPRX4gpcrOFF-TARGETT30.939Selectivity flag (off-target substrate)
CX3CR1gpcrOFF-TARGETT30.938Selectivity flag (off-target substrate)
GPR3gpcrOFF-TARGETT30.936Selectivity flag (off-target substrate)
SCTRgpcrOFF-TARGETT30.928Selectivity flag (off-target substrate)
MTNR1AgpcrOFF-TARGETT30.927Selectivity flag (off-target substrate)
MTNR1BgpcrOFF-TARGETT30.921Selectivity flag (off-target substrate)
MAP2K3kinaseOFF-TARGETT30.918Selectivity flag (off-target substrate)
GPR31gpcrOFF-TARGETT30.917Selectivity flag (off-target substrate)
ADGRG3gpcrOFF-TARGETT30.917Selectivity flag (off-target substrate)
GPR4gpcrOFF-TARGETT30.912Selectivity flag (off-target substrate)
OXGR1gpcrOFF-TARGETT30.912Selectivity flag (off-target substrate)
ACKR4gpcrOFF-TARGETT30.910Selectivity flag (off-target substrate)
MERTKkinaseOFF-TARGETT30.910Selectivity flag (off-target substrate)
ADGRE3gpcrOFF-TARGETT30.907Selectivity flag (off-target substrate)
PAK2kinaseOFF-TARGETT30.907Selectivity flag (off-target substrate)
P2RY12gpcrOFF-TARGETT30.905Selectivity flag (off-target substrate)
LPAR6gpcrOFF-TARGETT30.905Selectivity flag (off-target substrate)
RHOgpcrOFF-TARGETT30.904Selectivity flag (off-target substrate)
GPR25gpcrOFF-TARGETT30.899Selectivity flag (off-target substrate)
AK4kinaseOFF-TARGETT30.897Selectivity flag (off-target substrate)
GPR135gpcrOFF-TARGETT30.891Selectivity flag (off-target substrate)
HCRTR2gpcrOFF-TARGETT30.890Selectivity flag (off-target substrate)
GRK2kinaseOFF-TARGETT30.890Selectivity flag (off-target substrate)
CDK20kinaseOFF-TARGETT30.887Selectivity flag (off-target substrate)
HRH3gpcrOFF-TARGETT30.883Selectivity flag (off-target substrate)
CLK3kinaseOFF-TARGETT30.882Selectivity flag (off-target substrate)
PTK6kinaseOFF-TARGETT30.880Selectivity flag (off-target substrate)
HCRTR1gpcrOFF-TARGETT30.878Selectivity flag (off-target substrate)
AMHR2kinaseOFF-TARGETT30.877Selectivity flag (off-target substrate)
CHEK1kinaseOFF-TARGETT30.877Selectivity flag (off-target substrate)

Showing top 50 of 244 targets.

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