Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome

Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results The Externally Led Patient-Focused Drug Development (EL-PFDD) meeting was an opp...

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Bibliographic Details
Published in:Orphanet Journal of Rare Diseases
Main Authors: Luciana Gizzo, Geraldine Bliss, Chrystal Palaty, Alexander Kolevzon
Format: Article
Language:English
Published: BMC 2024-03-01
Subjects:
Phelan-McDermid syndrome
PMS
SHANK3
Autism spectrum disorder
ASD
Drug development
Online Access:https://doi.org/10.1186/s13023-024-03141-w

Internet

https://doi.org/10.1186/s13023-024-03141-w

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