Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

Matthew C. Judson; Luis Pereira de Almeida; Rebecca D. Burdine; Stormy J. Chamberlain; Benjamin E. Deverman; Ben Distel; Michael D. Ehlers; Elizabeth Jalazo; Steven A. Kushner; Mark Nespeca; Stephan J. Sanders; Martin Scheffner; Jason J. Yi; Mark J. Zylka; Ype Elgersma; Benjamin D. Philpot

doi:10.1186/s11689-026-09681-5

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

Matthew C. Judson
, Luis Pereira de Almeida
, Rebecca D. Burdine
, Stormy J. Chamberlain
, Benjamin E. Deverman
, Ben Distel
, Michael D. Ehlers
, Elizabeth Jalazo
, Steven A. Kushner
, Mark Nespeca
, Stephan J. Sanders
, Martin Scheffner
, Jason J. Yi
, Mark J. Zylka
, Ype Elgersma
, Benjamin D. Philpot

Molecular Biology

Research output: Contribution to journal › Review article › peer-review

Abstract

Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.

Original language	English (US)
Article number	15
Journal	Journal of Neurodevelopmental Disorders
Volume	18
Issue number	1
DOIs	https://doi.org/10.1186/s11689-026-09681-5
State	Published - Dec 2026

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Pathology and Forensic Medicine
Clinical Neurology
Cognitive Neuroscience

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10.1186/s11689-026-09681-5

Cite this

Judson, M. C., de Almeida, L. P., Burdine, R. D., Chamberlain, S. J., Deverman, B. E., Distel, B., Ehlers, M. D., Jalazo, E., Kushner, S. A., Nespeca, M., Sanders, S. J., Scheffner, M., Yi, J. J., Zylka, M. J., Elgersma, Y., & Philpot, B. D. (2026). Crossing the finish line towards a disease-modifying treatment for Angelman syndrome. Journal of Neurodevelopmental Disorders, 18(1), Article 15. https://doi.org/10.1186/s11689-026-09681-5

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title = "Crossing the finish line towards a disease-modifying treatment for Angelman syndrome",

abstract = "Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.",

author = "Judson, \{Matthew C.\} and \{de Almeida\}, \{Luis Pereira\} and Burdine, \{Rebecca D.\} and Chamberlain, \{Stormy J.\} and Deverman, \{Benjamin E.\} and Ben Distel and Ehlers, \{Michael D.\} and Elizabeth Jalazo and Kushner, \{Steven A.\} and Mark Nespeca and Sanders, \{Stephan J.\} and Martin Scheffner and Yi, \{Jason J.\} and Zylka, \{Mark J.\} and Ype Elgersma and Philpot, \{Benjamin D.\}",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2026.",

year = "2026",

month = dec,

doi = "10.1186/s11689-026-09681-5",

language = "English (US)",

volume = "18",

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publisher = "BioMed Central",

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Judson, MC, de Almeida, LP, Burdine, RD, Chamberlain, SJ, Deverman, BE, Distel, B, Ehlers, MD, Jalazo, E, Kushner, SA, Nespeca, M, Sanders, SJ, Scheffner, M, Yi, JJ, Zylka, MJ, Elgersma, Y & Philpot, BD 2026, 'Crossing the finish line towards a disease-modifying treatment for Angelman syndrome', Journal of Neurodevelopmental Disorders, vol. 18, no. 1, 15. https://doi.org/10.1186/s11689-026-09681-5

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T1 - Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

AU - Judson, Matthew C.

AU - de Almeida, Luis Pereira

AU - Burdine, Rebecca D.

AU - Chamberlain, Stormy J.

AU - Deverman, Benjamin E.

AU - Distel, Ben

AU - Ehlers, Michael D.

AU - Jalazo, Elizabeth

AU - Kushner, Steven A.

AU - Nespeca, Mark

AU - Sanders, Stephan J.

AU - Scheffner, Martin

AU - Yi, Jason J.

AU - Zylka, Mark J.

AU - Elgersma, Ype

AU - Philpot, Benjamin D.

PY - 2026/12

Y1 - 2026/12

N2 - Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.

AB - Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.

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M3 - Review article

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AN - SCOPUS:105033643810

SN - 1866-1947

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JO - Journal of Neurodevelopmental Disorders

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ER -

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

Abstract

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