Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund DOI Creative Commons

J. Michael Graglia,

Aaron J. Harding,

Kathryn A. Helde

и другие.

Therapeutic Advances in Rare Disease, Год журнала: 2025, Номер 6

Опубликована: Янв. 1, 2025

SYNGAP1-related disorder (SRD) is a developmental and epileptic encephalopathy caused by disruption of the SYNGAP1 gene. At beginning 2024, it one many rare monogenic brain disorders without disease-modifying treatments, but that changing. This article chronicles last 5 years, when treatments for SRD were not publicly in development, to start 2024 SRD-specific are advancing. We discuss progress across realms have brought forefront drug development highlight how Patient Advocacy Groups (PAGs) had direct roles accelerating route meaningful our children. with summary why an attractive pharmaceutical target. Second, we introduce disease, clinical features, number patients. Next, describe PAG, international partners cite examples broad range activities believe pace toward treatments. summarize current pipeline status each public project. Finally, two open questions urgently need be addressed advance trials SRD.

Язык: Английский

Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund DOI Creative Commons

J. Michael Graglia,

Aaron J. Harding,

Kathryn A. Helde

и другие.

Therapeutic Advances in Rare Disease, Год журнала: 2025, Номер 6

Опубликована: Янв. 1, 2025

SYNGAP1-related disorder (SRD) is a developmental and epileptic encephalopathy caused by disruption of the SYNGAP1 gene. At beginning 2024, it one many rare monogenic brain disorders without disease-modifying treatments, but that changing. This article chronicles last 5 years, when treatments for SRD were not publicly in development, to start 2024 SRD-specific are advancing. We discuss progress across realms have brought forefront drug development highlight how Patient Advocacy Groups (PAGs) had direct roles accelerating route meaningful our children. with summary why an attractive pharmaceutical target. Second, we introduce disease, clinical features, number patients. Next, describe PAG, international partners cite examples broad range activities believe pace toward treatments. summarize current pipeline status each public project. Finally, two open questions urgently need be addressed advance trials SRD.

Язык: Английский

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