International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.

Journal: American Journal Of Medical Genetics. Part A
Published:
Abstract

Schinzel-Giedion Syndrome (SGS) is an ultra-rare, multisystem, genetic developmental disorder caused by gain-of-function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method. A multidisciplinary panel of 21 experts from the USA and Europe was assembled. Experts responded to a two-round questionnaire, with a subgroup participating in a virtual workshop, through which recommendations pertaining to the diagnosis, monitoring, treatment, and management of SGS were iteratively developed. Consensus was defined as ≥ 70% of respondents demonstrating agreement/disagreement with 6-point Likert scale questions, or ≥ 70% of respondents selecting a given multiple-choice question option. Overall, 81/94 statements achieved consensus. Experts agreed that the recommendations should be considered applicable to any individual with confirmed SGS or an indicative phenotype and any SETBP1 gain-of-function mutation. Key considerations included early and sustained involvement of a multidisciplinary team, routine monitoring for common tumors, neurologic, renal, genitourinary, pulmonary, musculoskeletal and gastrointestinal manifestations/complications, and facilitation of shared decision-making processes. These recommendations should help guide clinicians and families/caregivers in care decisions to enhance quality and duration of life for individuals with SGS and facilitate shared decision-making.

Authors
Jessica Duis, Laura Agresta, William Bennett, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield