Consensus‐based follow‐up and treatment registry for GNAO1 ‐associated disorder

Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1 ‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and instruments. A panel of experts, including health care professionals and individuals with lived experience, was involved in the survey and Delphi procedure. The International Classification of Functioning, Disability and Health (ICF) was used as a framework for the Delphi query. Results The Delphi procedure consisted of 67 statements, including 19 on domains and 48 on instruments, identified from the survey and systematic search. The international panel consisted of 27 health care professionals and 10 parents. The panel recommended 17 ICF domains and 26 assessment instruments, mainly in the ‘Body Structures & Functions’ and ‘Activities & Participation’ components. Interpretation Using consensus‐based ICF domains and assessment instruments for a GNAO1 registry is a major step towards harmonization of future international registries, which will facilitate natural history studies and clinical trials.