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

Luciana Gizzo, Geraldine Bliss, Chrystal Palaty, Alexander Kolevzon

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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 opportunity for families affected by PMS to share with the Food and Drug Administration (FDA) how symptoms impact their lives and how treatments could be most meaningful. The Voice of the Patient report serves as a summary of this meeting to influence upcoming drug development and clinical trials. The purpose of this report is to provide a clinical perspective on the results of the EL-PFDD meeting to amplify the voice of these caregivers to the scientific community. Conclusions: Caregivers prioritize an improved quality of life for their loved ones characterized by improved cognitive function, improved communication, increased independence, and reduced risk of regression. With these caregiver priorities in mind, this report provides the FDA and the scientific community with a clear understanding of which aspects of PMS should influence the development of future therapeutics.

Original languageEnglish
Article number134
JournalOrphanet Journal of Rare Diseases
Issue number1
StatePublished - Dec 2024


  • ASD
  • Autism spectrum disorder
  • Caregiver perspective
  • Drug development
  • PMS
  • Phelan-McDermid syndrome
  • SHANK3


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