STXBP1 Encephalopathy (U.S.), February 2024
The MarketVue®: STXBP1 Encephalopathy market landscape report combines primary (KOL interviews) and secondary market research to empower strategic decision-making and provide a complete view of the market.
Every MarketVue® includes a disease overview, epidemiology (US and EU5), current treatment, unmet needs, pipeline and access and reimbursement chapter.
Topics covered in this report:
- Disease overview: Review the disease pathophysiology and potential druggable targets
- Epidemiology: Understand prevalence, diagnosed and drug-treated prevalence of the population and key market segments
- Current treatment: Understand the treatment decision tree and strengths and weaknesses of current on-label and off-label treatment
- Unmet needs: Identify opportunities to address treatment or disease management gaps
- Pipeline analysis: Compare current and emerging therapy clinical development strategy; their performance on efficacy, safety, and delivery metrics; and their potential to address unmet needs
- Value and access: Gain insights into the drug pricing landscape and payer controls within the disease market or analogous markets
Methodology:
Research for the MarketVue®: STXBP1 Encephalopathy report is supported by 8 qualitative interviews with key opinion leaders and secondary research.
Geographies covered:
United States plus epidemiology for EU5 (France, Germany, Italy, Spain, United Kingdom)
Key companies mentioned:
- Capsida Biotherapeutics
- Encoded Therapeutics
- UCB Biopharma
- Quiver Bioscience
- Stoke Therapeutics/Acadia Pharmaceuticals
- Ionis
- Panorama Medicine
Key drugs mentioned:
- CAP-002
- DEE4-STXBP1
- Pano-777
Key takeaways from the report:
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.
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.
1. DISEASE OVERVIEW
A rare genetic disorder impeding neurotransmitter function and resulting in seizures and neurodevelopmental delays
Figure 1.1. STXBP1 encephalopathy synaptic impairment
Table 1.1. Additional STXBP1 encephalopathy symptoms
There are hundreds of STXBP1 variants
Table 1.2. STXBP1 encephalopathy seizure types
2. EPIDEMIOLOGY & PATIENT POPULATIONS
Disease definition
Table 2.1 Diagnosed incident and prevalent populations of STXBP1 in the U.S. and EU5
3. DIAGNOSIS & CURRENT TREATMENT
Diagnosis overview
Figure 3.1. Common diagnostic pathway for STXBP1 patients
STXBP1 treatment algorithm
Figure 3.2. Treatment algorithm for the management of STXBP1
Figure 3.3. Proportion of STXBP1 patients refractory to antiepileptics
Physician insights on current STXBP1 treatment approaches
STXBP1 neuropsychological perspectives
Table 3.1. Scales used to evaluate STXBP1 patients
Figure 3.4. Potential referrals
Neuropsychologist perspectives on evaluating STXBP1 and related conditions
Key treatment dynamics that will shape disease management and novel therapy use in STXBP1
Table 3.2. Must-know STXBP1 market dynamics
Only a disease-modifying approach for STXBP1 will address neurodevelopmental outcomes
Figure 3.5. Important dynamics of STXBP1 market evolution
4. UNMET NEED
Overview
Figure 4.1. Top unmet needs in STXBP1
High unmet need patient types in STXBP1
Physician perspectives on unmet need
5. PIPELINE ANALYSIS
Overview
Table 5.1. Emerging STXBP1 therapies
Developmental outcome, seizure reduction, and durability will be important drivers of future STXBP1 product differentiation
Figure 5.1. Attributes that will drive uptake for emerging STXBP1 therapies
Physician insights on gene therapy mechanisms
6. VALUE & ACCESS
Overview
Table 6.1. Comparison of gene therapy pricing
Overview continued
Table 6.2. Comparison of ASO therapy pricing
Figure 6.1. Key reimbursement and access considerations for emerging gene therapies in STXBP1
Key insights from the gene therapy market
Table 6.3. Innovative payer coverage gene therapy insights
Insurance hurdles in STXBP1 diagnosis and treatment
Figure 6.2. Mean annual healthcare costs per patient by healthcare resource for DEEs
7. METHODOLOGY
Primary market research approach
Epidemiology methodology
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