Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey

Landlust, Annemiek; Koza, Sylvia A.; Carbin, Maya; Walinga, Margreet; Robert, Sandra; Cooke, Jennifer; Vyshka, Klea

doi:10.1016/j.ejmg.2023.104771

Cited by 10 publications

(1 citation statement)

References 27 publications

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“…Daily living skills, loss of communication, and worsening disease progression remained high priorities for treatment, in addition to treatment for common physical health related concerns such as increased pain tolerance, seizures, hypotonia, and motor planning difficulties. Our results are consistent with a published study that includes worldwide surveys that corroborate both our genetic demographics and caregiver concerns [ 23 ]. According to this study, PMS is more frequently caused by a deletion in chromosome 22q13.3 than a SHANK3 gene variant, consistent with our findings (63% to 34%, respectively).…”

Section: Discussionsupporting

confidence: 92%

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

Gizzo,

Bliss,

Palaty

et al. 2024

Orphanet J Rare Dis

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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.

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Section: Discussionsupporting

confidence: 92%