CatatoniaNCT06656572
Immunogenomic Analyses of Pediatric Catatonia
A study testing Genetic: Genomic sequencing and molecular diagnostic results, if any. and Phage display ImmunoPrecipiation Sequencing (PhIP-Seq) in people with Catatonia, run by Rady Pediatric Genomics & Systems Medicine Institute.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 17 years
- Conditions the study is for
- Catatonia
- What is being tested?
- Genetic: Genomic sequencing and molecular diagnostic results, if any. and Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 120 participants
- Where
- No sites listed yet
- Study dates
- 1 Dec 2024to 1 Sep 2030
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Individual in whom one of the following criteria is met:
- Child/adolescent Ages 0-17 (2) with a diagnosis of catatonia.
- OR
- 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
Who cannot join
- Child/adolescents patients who do not meet any of the inclusion criteria, or those who:
- 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
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
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.
Read the detailed description
Catatonia is a complex condition that affects children's behavior, movement, and emotions. It can be caused by various underlying health issues, such as genetic disorders or problems with the immune system. Identifying these underlying causes is crucial for providing the best care and treatment to affected children. In this study, the investigators aim to compare the effectiveness of traditional medical tests with a more advanced approach that includes genetic testing and immune system screening in finding the underlying causes of catatonia in children. The investigators will compare two groups of children with catatonia. One group will be identified from hospital records and will have undergone standard medical tests to find the cause of their catatonia. The other group will be a new set of patients who will receive both standard medical tests and additional advanced testing, including genome sequencing (a technique that reads the entire genetic code) and screening for antibodies that attack the brain. The investigators will use a statistical method called propensity score matching to make sure that the two groups are as similar as possible in terms of age, sex, and other relevant factors. This will help the investigators to fairly compare the effectiveness of the two approaches in identifying the underlying causes of catatonia. The investigators expect that combining standard medical tests with genome sequencing and autoantibody screening will be more effective in finding the underlying causes of catatonia in children compared to using standard medical tests alone. This could lead to more accurate diagnoses and more targeted treatments for children with catatonia, helping them to recover more quickly and improving their quality of life. If this study shows that the advanced testing approach is more effective in finding the underlying causes of catatonia, this could change the way doctors approach the diagnosis and treatment of this complex condition. In turn, this could lead to more accurate diagnoses, tailored treatments, and improved outcomes for children with catatonia and their families.
- Conditions
- Catatonia
- Being tested
- Genetic: Genomic sequencing and molecular diagnostic results, if any., Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)
- Keywords
- Genomics, Pediatric
- Medical subject headings
- Catatonia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic: Genomic sequencing and molecular diagnostic results, if any.Genetic
Genomic sequencing results may be used for diagnosis and treatment of participants.
Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)Diagnostic test
Whole Proteome programmable phage display immunoprecipitation sequencing will be used to diagnose known and novel autoantibodies.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: Genetic: Genomic sequencing and molecular diagnostic results, if any.; Diagnostic Test: Phage display ImmunoPrecipiation Sequencing (PhIP-Seq) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic rate of whole genome sequencing
Evaluate the impact of whole genome sequencing on diagnostic yield in pediatric catatonia, compared to standard medical workup.
Measured: 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)
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Oct 2024
- Study start1 Dec 2024 (estimated)
- Primary completion1 Sep 2026 (estimated)
- Study completion1 Sep 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CatatoniaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
- Sponsor type
- University, hospital or other
- Collaborators
- Brain & Behavior Research Foundation
- Responsible party
- Principal investigator, Aaron Besterman, Rady Pediatric Genomics & Systems Medicine Institute
- Investigators
- Aaron Besterman, MD, Principal investigator, Rady Pediatric Genomics & Systems Medicine Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06656572
- Sponsor's protocol ID
- 810014
- Other IDs
- 314882-00001
- Status last verified
- Nov 2024
- First submitted
- 22 Oct 2024
- Last updated
- 14 Nov 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunogenomic Analyses of Pediatric Catatonia
- ClinicalTrials.gov ID
- NCT06656572
- Acronym / sponsor ID
- 810014
- Conditions
- Catatonia
- Keywords
- Genomics, Pediatric
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine InstituteUniversity, hospital or other
- Collaborators
- Brain & Behavior Research Foundation
- Study start
- 1 Dec 2024 (estimated)
- Primary completion
- 1 Sep 2026 (estimated)
- Study completion
- 1 Sep 2030 (estimated)
- First posted
- 24 Oct 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Catatonia is a complex condition that affects children's behavior, movement, and emotions. It can be caused by various underlying health issues, such as genetic disorders or problems with the immune system. Identifying these underlying causes is crucial for providing the best care and treatment to affected children. In this study, the investigators aim to compare the effectiveness of traditional medical tests with a more advanced approach that includes genetic testing and immune system screening in finding the underlying causes of catatonia in children. The investigators will compare two groups of children with catatonia. One group will be identified from hospital records and will have undergone standard medical tests to find the cause of their catatonia. The other group will be a new set of patients who will receive both standard medical tests and additional advanced testing, including genome sequencing (a technique that reads the entire genetic code) and screening for antibodies that attack the brain. The investigators will use a statistical method called propensity score matching to make sure that the two groups are as similar as possible in terms of age, sex, and other relevant factors. This will help the investigators to fairly compare the effectiveness of the two approaches in identifying the underlying causes of catatonia. The investigators expect that combining standard medical tests with genome sequencing and autoantibody screening will be more effective in finding the underlying causes of catatonia in children compared to using standard medical tests alone. This could lead to more accurate diagnoses and more targeted treatments for children with catatonia, helping them to recover more quickly and improving their quality of life. If this study shows that the advanced testing approach is more effective in finding the underlying causes of catatonia, this could change the way doctors approach the diagnosis and treatment of this complex condition. In turn, this could lead to more accurate diagnoses, tailored treatments, and improved outcomes for children with catatonia and their families.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Enrollees - WGS | Experimental | Genetic: Genetic: Genomic sequencing and molecular diagnostic results, if any., Diagnostic Test: Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)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. |
Who may qualify
- Ages
- 0 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Individual in whom one of the following criteria is met:
- OR
Key exclusion criteria (6 listed)
- Child/adolescents patients who do not meet any of the inclusion criteria, or those who:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic: Genomic sequencing and molecular diagnostic results, if any.Genomic sequencing results may be used for diagnosis and treatment of participants. | Genetic | Enrollees - WGS |
| Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)Whole Proteome programmable phage display immunoprecipitation sequencing will be used to diagnose known and novel autoantibodies. | Diagnostic test | Enrollees - WGS |
Primary outcome
Diagnostic rate of whole genome sequencing
Time frame: 2 years
Evaluate the impact of whole genome sequencing on diagnostic yield in pediatric catatonia, compared to standard medical workup.
Diagnostic rate of brain reactive autoantibodies
Time frame: 2 years
Diagnostic rate of brain reactive autoantibodies via genomic and whole human proteome programmable phage display immunoprecipitation sequencing (PhIP-Seq)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Nov 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Aaron Besterman, MD principal investigator
Rady Pediatric Genomics & Systems Medicine Institute
Questions about this trial
What is this clinical trial studying?
A study testing Genetic: Genomic sequencing and molecular diagnostic results, if any. and Phage display ImmunoPrecipiation Sequencing (PhIP-Seq) in people with Catatonia, run by Rady Pediatric Genomics & Systems Medicine Institute.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 14 Nov 2024. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Aaron Besterman, MD (858-576-1700 ext. 221633, abesterman@health.ucsd.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic rate of whole genome sequencing (time frame: 2 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Nov 2024.