Understanding how immune diseases affect the nervous system

Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity

This study looks at how immune diseases affect the nervous system in patients and their healthy relatives to better understand the connection between these two systems.

Quick facts

• Study type: Observational
• Enrollment: 350 (estimated)
• Ages: 2 Years to 120 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT06169150 on ClinicalTrials.gov

What this trial studies

This observational study aims to characterize the neurologic manifestations in patients with known or suspected primary and acquired errors of immunity. Researchers will conduct clinical evaluations, including neurologic exams and neuroimaging, and collect various biospecimens such as blood and cerebrospinal fluid for analysis. The study will also involve healthy biological relatives and volunteers as controls to better understand the interaction between the immune and nervous systems. The goal is to uncover the underlying mechanisms of neurologic diseases related to immune dysfunction.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 2 years and older with primary or acquired immunodeficiencies and neurologic symptoms.

Not a fit: Patients without any immune system disorders or neurologic manifestations may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to more effective treatments for patients with immune-related neurologic complications.

How similar studies have performed: While the interaction between the immune and nervous systems is a recognized area of study, this specific approach to characterizing neurologic manifestations in this context is relatively novel.

Eligibility criteria

* INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

1. Aged \>=2 years. To be seen at the NIH CC, participants must be \>=3 years of age.
2. Willing to allow specimens and data to be stored for future research.
3. Willing to allow genetic testing on their biospecimens.
4. 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.

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:

1. 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).
2. Systemic infection or inflammatory disease with neurologic involvement.
3. Neuroimaging suggestive of infection or inflammation (for example, presence of contrast-enhancing lesions on CT or MRI).
4. Clinical presentation suggestive of infection or inflammatory process of the nervous system without better explanation.
5. 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:

1. Is either a biological relative of an affected participant or is unrelated.
2. Does not have a known diagnosis of neuroinfectious disease or neuroinflammation.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1. Pregnant (for biological relatives and healthy volunteers).
2. 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.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Farinaz Safavi, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
• Study coordinator: Kelsey L Yoo, P.A.-C

Conditions Nervous System Disease; Immune System Disease; Errors Of Immunity; Neurological Diseases; Neuroinflammation; Neuroinfections; Neurodegeneration; Primary Immunodeficiency