Vigil Neuroscience Highlights Publication on ALSP Genetic Mutation Prevalence in Neurology Genetics
Vigil Neuroscience (Nasdaq: VIGL) highlights a new publication in Neurology Genetics on the prevalence of CSF1R gene variants associated with adult-onset leukoencephalopathy with axonal-spheroids and pigmented glia (ALSP). The study suggests ALSP is underreported, with an estimated prevalence of 281 per 1 million in the UK population. This translates to approximately 19,000 cases in the U.S. and 29,000 in the EU and UK, significantly higher than previous estimates. The research indicates there may be over 2 million carriers worldwide. ALSP, a rare neurodegenerative disorder caused by CSF1R mutations, is often misdiagnosed and requires genetic testing for confirmation. This new data emphasizes the need for increased genetic screening and awareness to improve diagnosis and support for ALSP patients.
Vigil Neuroscience (Nasdaq: VIGL) mette in evidenza una nuova pubblicazione in Neurology Genetics sulla prevalenza delle variazioni del gene CSF1R associate a leucoencefalopatia ad esordio negli adulti con sfere assonali e glia pigmentata (ALSP). Lo studio suggerisce che ALSP è sottovalutata, con una prevalenza stimata di 281 casi per 1 milione nella popolazione del Regno Unito. Questo si traduce in circa 19.000 casi negli Stati Uniti e 29.000 in EU e UK, notevolmente più alto rispetto alle stime precedenti. La ricerca indica che potrebbero esserci oltre 2 milioni di portatori nel mondo. ALSP, un raro disturbo neurodegenerativo causato da mutazioni di CSF1R, è spesso soggetto a diagnosi errate e richiede test genetici per conferma. Questi nuovi dati enfatizzano la necessità di un aumento dello screening genetico e della sensibilizzazione per migliorare la diagnosi e il supporto ai pazienti affetti da ALSP.
Vigil Neuroscience (Nasdaq: VIGL) destaca una nueva publicación en Neurology Genetics sobre la prevalencia de variantes del gen CSF1R asociadas con leucoencefalopatía de inicio en adultos con esferoides axonales y glía pigmentada (ALSP). El estudio sugiere que ALSP está subreportado, con una prevalencia estimada de 281 por 1 millón en la población del Reino Unido. Esto se traduce en aproximadamente 19,000 casos en EE. UU. y 29,000 en la UE y el Reino Unido, significativamente más alto que las estimaciones anteriores. La investigación indica que puede haber más de 2 millones de portadores en todo el mundo. La ALSP, un raro trastorno neurodegenerativo causado por mutaciones en CSF1R, a menudo se diagnostica erróneamente y requiere pruebas genéticas para la confirmación. Estos nuevos datos enfatizan la necesidad de aumentar el cribado genético y la concienciación para mejorar el diagnóstico y el apoyo a los pacientes con ALSP.
Vigil Neuroscience(Nasdaq: VIGL)는 Neurology Genetics에 대해 성인 발병 축삭구체와 색소성 교세포를 동반한 백질뇌병증(ALSP)과 관련된 CSF1R 유전자 변이의 유병률에 관한 새로운 연구 발표를 강조합니다. 이 연구는 ALSP가 저주되었다고 제안하며, 영국 인구에서의 추정 유병률은 100만 명당 281명입니다. 이는 미국에서 약 19,000명, EU 및 UK에서 29,000명에 해당하며, 이전 추정보다 상당히 높은 수치입니다. 이 연구는 전 세계적으로 200만 명 이상의 보유자가 있을 것이라고 제시하고 있습니다. ALSP는 CSF1R 변이에 의해 발생하는 희귀한 신경퇴행성 장애로, 종종 잘못 진단되며 확인을 위해 유전자 검사가 필요합니다. 이 새로운 데이터는 ALSP 환자의 진단 개선과 지원을 위해 유전적 검진 및 인식 증가의 필요성을 강조합니다.
Vigil Neuroscience (Nasdaq: VIGL) met en avant une nouvelle publication dans Neurology Genetics sur la prévalence des variantes du gène CSF1R associées à leucoencéphalopathie à début adulte avec sphéroïdes axonaux et glies pigmentées (ALSP). L'étude suggère que l'ALSP est sous-estimée, avec une prévalence estimée à 281 cas pour 1 million dans la population du Royaume-Uni. Cela se traduit par environ 19 000 cas aux États-Unis et 29 000 dans l'UE et au Royaume-Uni, nettement plus élevé que les estimations précédentes. La recherche indique qu'il pourrait y avoir plus de 2 millions de porteurs dans le monde. L'ALSP, un trouble neurodégénératif rare causé par des mutations du CSF1R, est souvent mal diagnostiqué et nécessite des tests génétiques pour confirmation. Ces nouvelles données soulignent la nécessité d'accroître le dépistage génétique et la sensibilisation afin d'améliorer le diagnostic et le soutien aux patients atteints de l'ALSP.
Vigil Neuroscience (Nasdaq: VIGL) hebt eine neue Veröffentlichung in Neurology Genetics hervor, die sich mit der Prävalenz von CSF1R-Genvarianten befasst, die mit leukoenzephalopathie mit Erwachsenenbeginn mit axonalen Sphäroiden und pigmentierten Glia (ALSP) in Verbindung stehen. Die Studie legt nahe, dass ALSP unterberichtet ist, mit einer geschätzten Prävalenz von 281 Fällen pro 1 Million in der Bevölkerung des Vereinigten Königreichs. Das entspricht ungefähr 19.000 Fällen in den USA und 29.000 in der EU und dem Vereinigten Königreich, was erheblich höher ist als frühere Schätzungen. Die Forschung zeigt, dass es weltweit über 2 Millionen Träger geben könnte. ALSP, eine seltene neurodegenerative Erkrankung, die durch Mutationen im CSF1R verursacht wird, wird häufig fehldiagnostiziert und erfordert genetische Tests zur Bestätigung. Diese neuen Daten unterstreichen die Notwendigkeit einer erhöhten genetischen Untersuchung und Sensibilisierung, um die Diagnose und Unterstützung für ALSP-Patienten zu verbessern.
- New research suggests higher prevalence of ALSP, potentially expanding the market for VIGL's treatments
- Estimated 19,000 ALSP cases in U.S. and 29,000 in EU and UK, higher than previous estimates
- Over 2 million potential carriers worldwide, indicating a larger at-risk population
- ALSP is often misdiagnosed, which may slow adoption of VIGL's potential treatments
- Genetic testing required for ALSP diagnosis, potentially limiting access to treatment
Insights
This publication in Neurology Genetics brings significant new insights into the prevalence of CSF1R gene variants associated with Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP). The study's findings suggest that ALSP may be more common than previously thought, with an estimated 281 per 1 million prevalence of pathogenic and likely pathogenic CSF1R variants.
Key takeaways from this research include:
- An updated estimate of approximately
19,000 ALSP cases in the U.S. and29,000 in the EU and UK combined. - The potential for over 2 million carriers worldwide of pathogenic CSF1R variants.
- Association of CSF1R mutations with other cognitive, psychiatric and movement disorders.
This data underscores the importance of increased genetic screening for CSF1R-Related Disorders. It may lead to earlier diagnoses and better patient care. For Vigil Neuroscience, this research supports their focus on ALSP and potentially expands their target market. However, it's important to note that not all carriers will develop ALSP and further research is needed to understand the full implications of these findings.
The new prevalence data for ALSP could have significant implications for Vigil Neuroscience's market potential. With the estimated U.S. prevalence nearly doubling from
This expansion could potentially:
- Increase the revenue potential for Vigil's ALSP-focused therapies
- Attract more investor interest in the rare disease space
- Justify higher R&D investments in ALSP treatments
- Lead to faster patient recruitment for clinical trials
However, it's important to note that prevalence doesn't directly translate to market size. Factors such as diagnosis rates, treatment eligibility and pricing will ultimately determine the commercial opportunity. Additionally, this news might attract more competition to the ALSP space, potentially impacting Vigil's market position in the long term.
Investors should monitor how this new data influences Vigil's R&D pipeline, clinical trial progress and potential partnerships or funding opportunities. The company's ability to capitalize on this expanded market will be important for its future valuation and stock performance.
- CSF1R pathogenic and likely pathogenic variants reported to have an approximate prevalence of 281 per 1 million -
- New research supports updated estimates to U.S. prevalence of approximately 19,000 and approximately 29,000 in the EU and UK -
WATERTOWN, Mass., Aug. 01, 2024 (GLOBE NEWSWIRE) -- Vigil Neuroscience, Inc. (Nasdaq: VIGL), a clinical-stage biotechnology company committed to harnessing the power of microglia for the treatment of neurodegenerative diseases, today announced a peer-reviewed research publication that reported new data on the prevalence and clinical significance of CSF1R gene variants in the UK population. The research, published in the journal Neurology Genetics and conducted by Wade et al., suggests the estimated prevalence of adult-onset leukoencephalopathy with axonal-spheroids and pigmented glia (ALSP) is underreported in the U.S., EU, and UK.
The publication, titled “CSF1R-Related Disorder: Prevalence of CSF1R Variants and Their Clinical Significance in the UK Population,” consisted of a search for pathogenic and likely pathogenic CSF1R variants among the sequencing data within the UK Biobank, in combination with medical history and MRI results. ALSP is caused by a mutated CSF1R gene, classifying it as a CSF1R-Related Disorder.
“Extrapolating from the frequency of pathogenic and likely pathogenic CSF1R variants in the UK Biobank, we can conservatively estimate that there are more than 2 million carriers worldwide,” said David Lynch, M.D., Ph.D., Consultant Neurologist, National Hospital for Neurology & Neurosurgery and UCL Institute of Neurology in London, and corresponding author of the publication. “These data suggest that damaging mutations in CSF1R are more common than previously estimated in the general population and are associated with diagnoses for other cognitive, psychiatric and movement disorders. Increased genetic screening will help us better understand the prevalence of CSF1R-Related Disorders, like ALSP, as well as allow us to provide more timely diagnoses, specialized information, and services created to support people living with this devastating disease.”
ALSP, a rare neurodegenerative disorder, is commonly misdiagnosed as other, more common neurodegenerative diseases, and can only be confirmed with a genetic test. To better understand the prevalence of ALSP, it is important to understand the prevalence of the causative genetic mutations. Prior to this publication, it was estimated there may be approximately 10,000 people living with ALSP in the U.S. with similar prevalence outside of the U.S. Based on these new data, the Company now estimates U.S. prevalence of ALSP is approximately 19,000 while the estimated combined EU and UK prevalence is approximately 29,000.
“Deepening our understanding of the prevalence of ALSP – and learning that it is likely higher than previously thought – is helpful not only for expanding disease awareness, but as a means of improving the journey to diagnosis,” said Petra Kaufmann, M.D., F.A.A.N., Chief Medical Officer at Vigil. “Understanding the prevalence of a disease has a direct impact on its awareness in the healthcare community, improving the diagnostic process and the patient experience. This publication further underlines the sense of urgency we feel toward our ongoing efforts to address the severe unmet need of the ALSP community.”
About Vigil Neuroscience
Vigil Neuroscience is a clinical-stage biotechnology company focused on developing treatments for both rare and common neurodegenerative diseases by restoring the vigilance of microglia, the sentinel immune cells of the brain. Vigil is utilizing the tools of modern neuroscience drug development across multiple therapeutic modalities in its efforts to develop precision-based therapies to improve the lives of patients and their families. Iluzanebart, Vigil’s lead clinical candidate, is a fully human monoclonal antibody agonist targeting human triggering receptor expressed on myeloid cells 2 (TREM2) in people with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare and fatal neurodegenerative disease. Vigil is also developing VG-3927, a novel small molecule TREM2 agonist, to treat common neurodegenerative diseases associated with microglial dysfunction, with an initial focus on Alzheimer’s disease (AD) in genetically defined subpopulations.
Forward-Looking Statements
This press release includes certain disclosures that contain “forward-looking statements” of Vigil Neuroscience (“Vigil” or the “Company”) that are made pursuant to the safe harbor provisions of the federal securities laws, including, without limitation, express or implied statements regarding: estimates of the number of CSF1R carriers worldwide and the estimated prevalence of ALSP; and Vigil’s ability to impact the diagnostic process and the patient experience, and the expected therapeutic benefits of our programs. Forward-looking statements are based on Vigil’s current expectations and are subject to inherent uncertainties, risks and assumptions that are difficult to predict. Factors that could cause actual results to differ include, but are not limited to, risks and uncertainties related to uncertainties inherent in the development of product candidates, including the conduct of research activities and the conduct of clinical trials; whether results from preclinical studies and clinical trials will be predictive of the results of later preclinical studies and clinical trials; as well as the risks and uncertainties identified in the Company’s filings with the Securities and Exchange Commission (SEC), including Vigil’s Quarterly Report on Form 10-Q for the quarter ended March 31, 2024 and in any subsequent filings Vigil makes with the SEC. Forward-looking statements contained in this announcement are made as of this date, and Vigil undertakes no duty to update such information except as required under applicable law. Readers should not rely upon the information on this page as current or accurate after its publication date.
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FAQ
What is the estimated prevalence of CSF1R pathogenic variants according to the new study?
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