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These calls for collaborative projects typically aim to rapidly build up consistent clinical series for rare monogenic disorders, in order to better delineate the clinical spectrum and natural history of recently identified entities in the field of the ERN-ITHACA.
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PACS1-related disorder: diagnostic and management recommendations, core outcomes, and therapeutic trial readiness—an e-Delphi consensus
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Gene/phenotype/disorder of interest
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Despite increasing knowledge of PACS1-related disorder, there are currently no internationally agreed recommendations addressing clinical management, longitudinal surveillance, or standardized outcomes for future therapeutic studies. The study has been developed in collaboration with the Italian patient association for PACS1-related disorder and it is designed to incorporate the perspectives of experts with experience in caring for children and/or adults with PACS1-related disorder. In particular, we aim to establish:
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- consensus-based recommendations for diagnosis, clinical assessment, management, and surveillance;
- a lifespan Core Outcome Set for future therapeutic studies;
- domain-specific outcomes to be assessed when clinically relevant;
- the potential role of EEG and molecular/epigenetic biomarkers as clinical or therapeutic outcome measures.
- Diego Lopergolo; diego.lopergolo@unifi.it
Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
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Specific requirements beyond clinical data and genotype data sharing:
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- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N
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