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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03141-w |
| _version_ | 1827300883219611648 |
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| author | Luciana Gizzo Geraldine Bliss Chrystal Palaty Alexander Kolevzon |
| author_facet | Luciana Gizzo Geraldine Bliss Chrystal Palaty Alexander Kolevzon |
| author_sort | Luciana Gizzo |
| collection | DOAJ |
| description | 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 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. |
| first_indexed | 2024-04-24T16:13:40Z |
| format | Article |
| id | doaj.art-c76bfb9944134a169b74eae592f6de97 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-24T16:13:40Z |
| publishDate | 2024-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-c76bfb9944134a169b74eae592f6de972024-03-31T11:35:22ZengBMCOrphanet Journal of Rare Diseases1750-11722024-03-011911810.1186/s13023-024-03141-wCaregiver perspectives on patient-focused drug development for Phelan-McDermid syndromeLuciana Gizzo0Geraldine Bliss1Chrystal Palaty2Alexander Kolevzon3University of New England College of Osteopathic MedicineCureSHANKMetaphase Health Research Consulting Inc.Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount SinaiAbstract 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.https://doi.org/10.1186/s13023-024-03141-wPhelan-McDermid syndromePMSSHANK3Autism spectrum disorderASDDrug development |
| spellingShingle | Luciana Gizzo Geraldine Bliss Chrystal Palaty Alexander Kolevzon Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome Orphanet Journal of Rare Diseases Phelan-McDermid syndrome PMS SHANK3 Autism spectrum disorder ASD Drug development |
| title | Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome |
| title_full | Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome |
| title_fullStr | Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome |
| title_full_unstemmed | Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome |
| title_short | Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome |
| title_sort | caregiver perspectives on patient focused drug development for phelan mcdermid syndrome |
| topic | Phelan-McDermid syndrome PMS SHANK3 Autism spectrum disorder ASD Drug development |
| url | https://doi.org/10.1186/s13023-024-03141-w |
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