Infantile Spasms (IS)
Therapeutic development for infantile spasms (IS) faces key challenges including urgent treatment time sensitivity, heterogeneous etiologies requiring precision approaches and medication side effects. With our deep expertise in IS therapy development, Protheragen is well positioned to provide tailored solutions and comprehensive support to facilitate your journey from IS therapy research to commercialization.
Introduction to Infantile Spasms (IS)
Infantile spasms (IS), also known as West syndrome when presenting with the classic triad of spasms, hypsarrhythmia EEG, and developmental regression, represent one of the most severe epileptic encephalopathies of early childhood. With onset typically between 3-12 months of age, IS affects 1 in 2,000-4,000 live births and carries significant neurological morbidity if not treated urgently.
Fig.1 Sites of potential pathophysiology of infantile spasms (IS) in selected animal models. (Janicot, Remi, et al., 2020)
Pathogenesis of Infantile Spasms (IS)
The pathogenesis of infantile spasms (IS) centers around three mechanisms: (1) in genetically caused cases like ARX mutations, there is GABAergic dysfunction owing to immature chloride homeostasis which leads to GABAergic excitatory effects; (2) in tuberous sclerosis complex (TSC) there is hyperactivation of the mTOR pathway which causes abnormal cortical connections and epileptogenic tubers; and (3) in cases related to CDKL5 there is an imbalance of neurotransmitters such as excess corticotropin-releasing hormone (CRH) and deficient serotonin. The combination of these disturbances causes thalamocortical network hyperexcitability, which results in spasms and hypsarrhythmia.
Fig.2 Pathological mechanism of infantile epileptic spasms syndrome (IESS). (Innes, Emily A., et al., 2025)
Therapeutic Development for Infantile Spasms (IS)
| Drug Names | Mechanism of Action | Targets | NCT Number | Research Phase |
| Radiprodil | Selective negative allosteric modulator of GluN2B-containing NMDA receptors | GluN2B subunit of NMDA receptors | NCT02829827 | Phase II |
| Vigabatrin | Irreversible inhibitor of GABA transaminase; increases synaptic GABA levels | GABA transaminase enzyme | NCT01413711 | Approved |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
Specializing in comprehensive solutions for infantile spasms (IS), Protheragen integrates diagnostic development with cutting-edge in vitro diagnostic (IVD) kits for early disease identification. Our therapeutic development pipeline leverages exclusive disease models, such as physiologically representative blood-brain barrier (BBB) models, to expedite the exploration and authentication of central nervous system (CNS) targeted treatments.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
- Corticotropin-Releasing Hormone (CRH) Induced Model
- N-methyl-d-aspartate (NMDA) Induced Model
- Tetrodotoxin (TTX) Induced Model
- Ts65Dn Mouse Model
- ARX Knockout Model
Focusing on preclinical research, Protheragen offers comprehensive pharmacodynamic (PD), pharmacokinetic (PK), and toxicology study services to support the development and regulatory approval of potential therapies. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Janicot, Remi, Li-Rong Shao, and Carl E. Stafstrom. "Infantile spasms: an update on pre-clinical models and EEG mechanisms." Children 7.1 (2020): 5.
- Innes, Emily A., et al. "Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review." Developmental Medicine & Child Neurology (2025).