Nervous System DiseaseNCT06169150
Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity
An observational study of Nervous System Disease and Immune System Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
Background: Immune system and nervous system have significant interaction so that People with immunity diseases can have complications that affect the nervous system and people with some neurological disease may have defects in their immune system.These complications can affect many body functions, including how they… Read more about this study
- Who is it for?
- Ages 2 to 120 yearsHealthy volunteers can take part
- Conditions the study is for
- Nervous System Disease, Immune System Disease
- How many people
- 350 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Jan 2024to 1 Oct 2043
- Phase
- Observational
- 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 2 to 120 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Participants will be recruited from NIH protocols 15-N-0125 (Natural History Study of Inflammatory and Infectious Diseases of the Nervous System) and 93-I-0119 (Detection and Characterization of Host Defense Defects), or from referrals. Biological relatives of affected participants may be enrolled on this study as controls.
Who may be able to join
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Aged >=2 years. To be seen at the NIH CC, participants must be >=3 years of age.
- Willing to allow specimens and data to be stored for future research.
- Willing to allow genetic testing on their biospecimens.
- Able to provide informed consent (for ages >=18 years) or has parent(s) or guardian(s) who can provide permission to participate on their behalf (for ages <18 years).
- Decisionally impaired affected adult participants may have a legally authorized representative (LAR) to provide informed consent on their behalf.
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- Additional Inclusion Criterion for Affected Participants:
- Has a primary or acquired immunodeficiency and known or suspected infection or inflammation of the nervous system or post-infection sequelae, based on clinical or imaging data provided by the referral facility, or is at risk of developing such a neurologic complication. For the purpose of this study, neuroinfectious disease or neuroinflammation is defined as any of the following:
- Any neurologic symptoms accompanied by CSF with evidence of inflammation (which may include pleocytosis, hypoglycorrachia, elevated protein, or other evidence of intrathecal immune activation, including immunoglobulin [Ig] G index or presence of oligoclonal bands).
- Systemic infection or inflammatory disease with neurologic involvement.
- Neuroimaging suggestive of infection or inflammation (for example, presence of contrast-enhancing lesions on CT or MRI).
- Clinical presentation suggestive of infection or inflammatory process of the nervous system without better explanation.
- History of infection or inflammatory process of the nervous system.
- Affected participants must also have their own primary health care provider to manage their condition outside the NIH.
- Additional Inclusion Criteria for Biological Relatives and Healthy Volunteers:
- Is either a biological relative of an affected participant or is unrelated.
- Does not have a known diagnosis of neuroinfectious disease or neuroinflammation.
Who cannot join
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Pregnant (for biological relatives and healthy volunteers).
- Any condition that, in the judgment of the investigator, may put the participant at undue risk or make them unsuitable for participation in the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Farinaz Safavi, MD, 240-627-3828, farinaz.safavi@nih.gov
NIH Clinical Center Office of Patient Recruitment (OPR), (800) 411-1222, ccopr@nih.gov
About this study
Background:
Immune system and nervous system have significant interaction so that People with immunity diseases can have complications that affect the nervous system and people with some neurological disease may have defects in their immune system.These complications can affect many body functions, including how they move, walk, think, and feel. Researchers do not fully understand how immune diseases affect the nervous system. By learning more, they hope to create more effective treatments.
Read more
Objective:
To learn more about the interaction between immune and nervous system and how immunity disease affect the nervous system.
Eligibility:
People aged 2 years and older with an immunity disease. Their healthy biological relatives and other healthy volunteers are also needed.
Design:
Participants will be screened. Blood will be drawn for research. They may have imaging scans. Adults may undergo lumbar puncture: A needle will be inserted into their back to collect fluid from the space around the spinal cord. The imaging scans and lumbar puncture will be optional for healthy relatives and volunteers.
All participants will have 1 study visit per year for 5 years.
They will be asked to donate samples of body fluids at each visit. Blood samples are required for the study. All other donations are optional. These may include saliva, urine, breast milk, stool, vaginal secretions, and wound drainage.
Affected participants may be asked for a skin biopsy: A small sample of skin will be removed. They may also be photographed or videotaped to record the symptoms of their disease.
Tests for each study visit may be spread over several days, if needed.
Visits may be at the clinic. Participants may also collect their own samples at home and send them to the researchers....
Read the detailed description
Study Description:
In this study, we will characterize clinical neurologic presentations of patients with known or unevaluated primary and acquired errors of immunity. Investigating the underlying mechanisms of neurologic diseases and their genetic and immunologic bases requires periodic clinical evaluation of these patients and research analyses of their biospecimens. These biospecimens include blood, cerebrospinal fluid (CSF), urine, saliva, skin, breast milk, stool, vaginal specimens, and wound drainage. Magnetic resonance imaging (MRI) of the neural axis may also be done. Data and excess biospecimens from routine clinical care may also be collected and used for research. We propose to evaluate patients who either have or are suspected of having immune defects or other types of host defense defects with neurologic presentations. Unaffected biological relatives and healthy volunteers will also be enrolled as controls for research analyses.
Primary Objectives:
- Clinically characterize neurologic manifestations of errors of immunity via neurologic exam and neuroimaging.
- Determine genetic defects in participants.
Secondary Objective:
Characterize immune cells in CSF and blood.
Primary Endpoints:
- Clinical characterization of neurologic manifestations in participants with recognized and unrecognized errors of immunity based on neurologic examination, neuroimaging, and other necessary neurologic tests depending on clinical presentation.
- Characterization of inherited or acquired errors of immunity in participants with rare neurologic diseases.
Secondary Endpoint:
Characterization and comparison of immunologic phenotypes of both CSF and blood in participants with errors of immunity vs healthy controls, and longitudinally in participants using cellular and molecular immunologic techniques, including but not limited to immune cell phenotype, transcriptomics, metagenomics, and immune biomarkers.
- Conditions
- Nervous System Disease, Immune System Disease
- Keywords
- Errors Of Immunity, Neurological Diseases, Neuroinflammation, Neuroinfections, Neurodegeneration, Primary Immunodeficiency, Neuropathogenesis, Inborn Errors of Immunity
- Medical subject headings
- Nervous System Diseases, Immune System Diseases, Neuroinflammatory Diseases, Nerve Degeneration, Primary Immunodeficiency Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Healthy Controls | Biological relatives or unrelated persons without a known diagnosis of neuroinfectious disease or neuroinflammation. | |
| Primary or acquired immunodeficiency | Known or suspected infection or inflammation of the nervous system or post infection sequelae, or is at risk of developing such a neurologic complication. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical characterization of neurologic manifestations in participants with recognized and unrecognized errors of immunity based on neurologic examination, neuroimaging, and other necessary neurologic tests depending on clinical presentation.
Clinically characterize neurologic manifestations of errors of immunity via neurologic exam and neuroimaging.
Measured: Through end of participation.
Characterization of inherited or acquired errors of immunity in participants with rare neurologic diseases.
Determine genetic defects in participants.
Measured: Through end of participation.
Secondary outcomes (1)
Characterization and comparison of immunologic phenotypes of both CSF and blood in participants with errors of immunity vs healthy controls, and longitudinally in participants using cellular and molecular immunologic techniques.
Characterize immune cells in CSF and blood.
Measured: Through end of participation.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Dec 2023
- Study start12 Jan 2024
- Primary completion1 Jan 2043 (estimated)
- Study completion1 Oct 2043 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Nervous System DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 350 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Farinaz Safavi, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06169150
- Sponsor's protocol ID
- 10001511
- Other IDs
- 001511-I
- Status last verified
- 31 Jul 2026
- First submitted
- 11 Dec 2023
- Last updated
- 5 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Raw and processed de-identified data from the whole blood bulk RNA-seq and single-cell CITE-seq will be available from the NCBI Gene Expression Omnibus.
Study at a glance
From the registry record, last updated by the sponsor on 5 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity
- ClinicalTrials.gov ID
- NCT06169150
- Acronym / sponsor ID
- 10001511
- Conditions
- Nervous System Disease, Immune System Disease
- Keywords
- Errors Of Immunity, Neurological Diseases, Neuroinflammation, Neuroinfections, Neurodegeneration, Primary Immunodeficiency, Neuropathogenesis, Inborn Errors of Immunity
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 350 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 12 Jan 2024 (actual)
- Primary completion
- 1 Jan 2043 (estimated)
- Study completion
- 1 Oct 2043 (estimated)
- First posted
- 13 Dec 2023 (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.
Background:
Immune system and nervous system have significant interaction so that People with immunity diseases can have complications that affect the nervous system and people with some neurological disease may have defects in their immune system.These complications can affect many body functions, including how they move, walk, think, and feel. Researchers do not fully understand how immune diseases affect the nervous system. By learning more, they hope to create more effective treatments.
Objective:
To learn more about the interaction between immune and nervous system and how immunity disease affect the nervous system.
Eligibility:
People aged 2 years and older with an immunity disease. Their healthy biological relatives and other healthy volunteers are also needed.
Design:
Participants will be screened. Blood will be drawn for research. They may have imaging scans. Adults may undergo lumbar puncture: A needle will be inserted into their back to collect fluid from the space around the spinal cord. The imaging scans and lumbar puncture will be optional for healthy relatives and volunteers.
All participants will have 1 study visit per year for 5 years.
They will be asked to donate samples of body fluids at each visit. Blood samples are required for the study. All other donations are optional. These may include saliva, urine, breast milk, stool, vaginal secretions, and wound drainage.
Affected participants may be asked for a skin biopsy: A small sample of skin will be removed. They may also be photographed or videotaped to record the symptoms of their disease.
Tests for each study visit may be spread over several days, if needed.
Visits may be at the clinic. Participants may also collect their own samples at home and send them to the researchers....
Detailed description
Study Description:
In this study, we will characterize clinical neurologic presentations of patients with known or unevaluated primary and acquired errors of immunity. Investigating the underlying mechanisms of neurologic diseases and their genetic and immunologic bases requires periodic clinical evaluation of these patients and research analyses of their biospecimens. These biospecimens include blood, cerebrospinal fluid (CSF), urine, saliva, skin, breast milk, stool, vaginal specimens, and wound drainage. Magnetic resonance imaging (MRI) of the neural axis may also be done. Data and excess biospecimens from routine clinical care may also be collected and used for research. We propose to evaluate patients who either have or are suspected of having immune defects or other types of host defense defects with neurologic presentations. Unaffected biological relatives and healthy volunteers will also be enrolled as controls for research analyses.
Primary Objectives:
- Clinically characterize neurologic manifestations of errors of immunity via neurologic exam and neuroimaging.
- Determine genetic defects in participants.
Secondary Objective:
Characterize immune cells in CSF and blood.
Primary Endpoints:
- Clinical characterization of neurologic manifestations in participants with recognized and unrecognized errors of immunity based on neurologic examination, neuroimaging, and other necessary neurologic tests depending on clinical presentation.
- Characterization of inherited or acquired errors of immunity in participants with rare neurologic diseases.
Secondary Endpoint:
Characterization and comparison of immunologic phenotypes of both CSF and blood in participants with errors of immunity vs healthy controls, and longitudinally in participants using cellular and molecular immunologic techniques, including but not limited to immune cell phenotype, transcriptomics, metagenomics, and immune biomarkers.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy Controls | – | –Biological relatives or unrelated persons without a known diagnosis of neuroinfectious disease or neuroinflammation. |
| Primary or acquired immunodeficiency | – | –Known or suspected infection or inflammation of the nervous system or post infection sequelae, or is at risk of developing such a neurologic complication. |
Who may qualify
- Ages
- 2 to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants will be recruited from NIH protocols 15-N-0125 (Natural History Study of Inflammatory and Infectious Diseases of the Nervous System) and 93-I-0119 (Detection and Characterization of Host Defense Defects), or from referrals. Biological relatives of affected participants may be enrolled on this study as controls.
Key inclusion criteria (17 listed)
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Aged >=2 years. To be seen at the NIH CC, participants must be >=3 years of age.
- Willing to allow specimens and data to be stored for future research.
- Willing to allow genetic testing on their biospecimens.
- Able to provide informed consent (for ages >=18 years) or has parent(s) or guardian(s) who can provide permission to participate on their behalf (for ages <18 years).
Key exclusion criteria (3 listed)
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Pregnant (for biological relatives and healthy volunteers).
- Any condition that, in the judgment of the investigator, may put the participant at undue risk or make them unsuitable for participation in the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical characterization of neurologic manifestations in participants with recognized and unrecognized errors of immunity based on neurologic examination, neuroimaging, and other necessary neurologic tests depending on clinical presentation.
Time frame: Through end of participation.
Clinically characterize neurologic manifestations of errors of immunity via neurologic exam and neuroimaging.
Characterization of inherited or acquired errors of immunity in participants with rare neurologic diseases.
Time frame: Through end of participation.
Determine genetic defects in participants.
1 secondary outcome
Characterization and comparison of immunologic phenotypes of both CSF and blood in participants with errors of immunity vs healthy controls, and longitudinally in participants using cellular and molecular immunologic techniques.
Time frame: Through end of participation.
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 5 Aug 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Raw and processed de-identified data from the whole blood bulk RNA-seq and single-cell CITE-seq will be available from the NCBI Gene Expression Omnibus.
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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.
Farinaz Safavi, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Nervous System Disease and Immune System Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
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 17 inclusion and 3 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: looking for participants now, as of the sponsor's last update on 5 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
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 Kelsey L Yoo, P.A.-C ((240) 656-0596, kelsey.yoo@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical characterization of neurologic manifestations in participants with recognized and unrecognized errors of immunity based on neurologic examination, neuroimaging, and other necessary neurologic tests depending on clinical presentation. (time frame: Through end of participation.). 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 5 Aug 2026.