About this trial
Rady Children's Institute for Genomic Medicine seeks to understand the genomes and immune systems in 40 children and adolescents who are admitted to Rady Children's Hospital San Diego with a catatonia diagnosis. Cutting-edge genome and protein sequencing technology will be used to better understand how immunological and genetic assessments may improve the ability to identify the cause of catatonia and impact care. The investigator also hopes to identify new genetic and/or autoimmune causes of catatonia that may inform new treatment for future patients.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Child/adolescent Ages 0-17 (2) with a diagnosis of catatonia.
Biological parents of child/adolescent enrolled in this study for the purposes of reflex testing. Family members are eligible for participation in this study if they are presumed to be genetically related to a patient participant
Disqualifiers
Already received any prior whole genome sequencing or exome sequencing.
Unable to approach the family or patient for enrollment.
Unable to obtain informed consent.
They are known to not be genetically related to the child/adolescent patient participant
Trial design
Single group
Treatments tested in this trial
Genetic: Genomic sequencing and molecular diagnostic results, if any.
GeneticGenomic sequencing results may be used for diagnosis and treatment of participants.
Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)
Diagnostic testWhole Proteome programmable phage display immunoprecipitation sequencing will be used to diagnose known and novel autoantibodies.
Treatment groups
Trial outcomes
Primary outcomes
Diagnostic rate of whole genome sequencing
Evaluate the impact of whole genome sequencing on diagnostic yield in pediatric catatonia, compared to standard medical workup.
Diagnostic rate of brain reactive autoantibodies
Diagnostic rate of brain reactive autoantibodies via genomic and whole human proteome programmable phage display immunoprecipitation sequencing (PhIP-Seq)
Locations
Sponsors and contacts
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Rady Pediatric Genomics & Systems Medicine Institute
Lead sponsor
Brain & Behavior Research Foundation
Collaborator
This trial is not recruiting at the moment. You can still explore other options: