Immunogenomic Analyses of Pediatric Catatonia

NCT06656572 | Not Yet Recruiting

• 2 other identifiers: 810014314882-00001
• Study Type: interventional
• Target: 120
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Catatonia

Keywords

Genomics; Pediatric

Outcome Measures

Primary Outcomes (2)

• Diagnostic rate of whole genome sequencing

  Evaluate the impact of whole genome sequencing on diagnostic yield in pediatric catatonia, compared to standard medical workup.

  2 years

• 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)

  2 years

Study Arms (1)

Enrollees - WGS

EXPERIMENTAL

These participants will be subject to whole genome sequencing and Phage ImmunoPrecipiation sequencing (PhIP-Seq) to identify genetic changes and novel antibodies associated with catatonia.

Genetic: Genetic: Genomic sequencing and molecular diagnostic results, if any.; Diagnostic Test: Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)

Interventions

Genetic: Genomic sequencing and molecular diagnostic results, if any. GENETIC

Genomic sequencing results may be used for diagnosis and treatment of participants.

Enrollees - WGS

Phage display ImmunoPrecipiation Sequencing (PhIP-Seq) DIAGNOSTIC_TEST

Whole Proteome programmable phage display immunoprecipitation sequencing will be used to diagnose known and novel autoantibodies.

Enrollees - WGS

Eligibility Criteria

• Age: 0 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Individual in whom one of the following criteria is met:
• 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

You may not qualify if:

• Already received any prior whole genome sequencing or exome sequencing.
• Unable to approach the family or patient for enrollment.
• Unable to obtain informed consent.
• Family members are ineligible for participation in this study if:
• They are known to not be genetically related to the child/adolescent patient participant

Sponsors & Collaborators

• Rady Pediatric Genomics & Systems Medicine Institute: lead
• Brain & Behavior Research Foundation: collaborator

MeSH Terms

Conditions

Catatonia

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Behavioral Symptoms; Behavior

Study Officials

• Aaron Besterman, MD

  Rady Pediatric Genomics & Systems Medicine Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Aaron Besterman, MD

CONTACT

858-576-1700; abesterman@health.ucsd.edu

Corrine Blucher, BS

CONTACT

858-576-1700; cblucher@rchsd.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Health Sciences Associate Clinical Professor, UCSD Department of Psychiatry Clinical Investigator, Rady Children's Institute for Genomic Medicine Child & Adolescent Psychiatrist, Rady Children's Hospital San Diego

Study Record Dates

• First Submitted: October 22, 2024
• First Posted: October 24, 2024
• Study Start: December 1, 2024
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2030
• Last Updated: November 14, 2024

Record last verified: 2024-11