Despite significant unmet need, there are currently no disease-modifying therapies available for the treatment of STXBP1 encephalopathy, although there are at least six assets in preclinical development, according to findings from REACH Market Research.
NEWTON, Mass., – January 25, 2024 – STXBP1 encephalopathy is a rare, developmental epileptic encephalopathy characterized by early onset seizures and significant neurodevelopmental disability. At present, treatment consists of various antiepileptics as well as physical or occupational therapy to reduce seizure burden and prevent further developmental regression.
To access REACH’s MarketVue® Report on STXBP1, visit https://reachmr.com or contact us at info@reachmr.com.
Treating neurologists and epileptologists are eager for additional treatment options beyond antiepileptics, as most patients have frequent, refractory seizures that are difficult to control. Additionally, current medication approaches do not address any complications of the encephalopathy outside of seizure burden such as neurodevelopmental delays and cognitive deficits at present. REACH’s MarketVue® assessment of current treatment outcomes found that even among the minority of patients with some level of seizure control, reduction in seizure frequency is not necessarily associated with improved neurodevelopmental outcomes.
Pediatric Epileptologist: “So far there’s no disease-modifying treatment, so the treatments at this point are all trying to reduce the downstream effects of the primary problem, which is the gene mutation, which then leads to epilepsy, and there are seizures, so you treat the seizures with antiseizure medications, and you use the best combination of antiseizure medicines for that specific constellation of age, type of seizure, and EEG pattern.”
Beyond antiepileptics, the STXBP1 pipeline is immature, however there are two disease-altering mechanisms in preclinical development targeting the dysfunctional STXBP1 protein:
- Adeno-associated virus (AAV)-based gene therapies
- Antisense oligonucleotides (ASO)
With STXBP1 disease onset occurring in infancy, the value of a disease-modifying therapy with one of these mechanisms lies in early intervention. Experts hypothesize that STXBP1 encephalopathy impedes the most rapid and foundational brain development that occurs in infancy and early childhood. Therefore, interrupting the underlying pathophysiology of the disease as early as possible will be pivotal in allowing the brain to develop normally and prevent long-term neurodevelopmental disabilities.
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