An observational study in Immunosuppression, Periodontal Disease and Healthy Subjects, sponsored by National Institute of Dental and Craniofacial Research (NIDCR). Recruiting at 1 site in United States. Open to participants aged 7 Years to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-26.
Sponsored by National Institute of Dental and Craniofacial Research (NIDCR) · Observational
Background:
- Gum disease is a condition in which the tissue around the tooth root becomes swollen and infected. This condition can cause tooth loss if it is not treated. Who gets gum disease and how bad it will be depends on (1) the different bacteria in the mouth and (2) how the immune system of an individual handles these bacteria. Researchers want to look at the oral bacteria and genetic immune problems of different people to learn how these affect gum disease and other conditions of the mouth.
Objectives:
- To study how immune system problems may lead to problems in the mouth, including gum disease.
Eligibility:
Design:
This is a cross sectional/natural history protocol designed to investigate the clinical,
microbiologic, and immunologic consequences of genetic immune defects in the oral cavity. The hypothesis is that genetic immune defects will lead to alterations in the local immune response and microbial colonization and ultimately predispose to susceptibility to oral infections and inflammatory conditions.
In the cross-sectional phase the following individuals will be enrolled, evaluated and screened for presence and severity of periodontitis, presence of a genetic defects and sampled for studies in oral immunity and microbiome: 1) individuals diagnosed with genetic immune defects 2) individuals with severe periodontitis of suspected genetic etiology and their family members 3) healthy volunteers. Subjects identified with a genetic immune defect and with presence of oral disease (primarily periodontitis) may enter the natural history phase of the study to be clinically followed at the National Institutes of Health (NIH) over time. This protocol aims to determine whether specific genetic immune defects will predispose to oral disease (primarily periodontitis) and to better understand consequences of immune deficiency on the oral immune response and microbiome.
Primary Objectives
Secondary Objectives
Study Population (s)
The study population will include:
Design
This is a cross-sectional/natural history study for the evaluation of clinical, immunologic, and microbiologic oral manifestations (primarily periodontitis) in patients diagnosed with genetic immune defects or those with severe periodontitis of suspected genetic etiology and healthy volunteer subjects.
Cross Sectional Phase: Three groups of subjects will be enrolled in the cross-sectional phase of the study 1) individuals diagnosed with genetic immune defects 2) individuals with severe periodontitis of suspected genetic etiology and their family members that include parents or siblings 3) healthy volunteers (with/without periodontal disease). All groups will be evaluated for oral disease (periodontitis) may be and sampled for oral immunity, systemic immunity and microbiome characterization. Individuals with severe periodontitis in the presence/absence of a genetic defect may be offered the option of receiving standard of care inflammatory control periodontal treatment at NIH without travel compensation, following the cross-sectional portion of the study. Family members (parents or siblings) of individuals with periodontal disease of suspected genetic may be asked to participate in this study. During the course of genetic testing, family members may be enrolled in the cross sectional phase of the study for phenotyping and genetic testing.
Natural History Phase: Subjects identified with a genetic defect with the presence of oral disease may enroll in the natural history phase of the study to be followed clinically over time.
Primary Outcome Measures
Secondary Outcome Measures
Exploratory Outcome Measures
Initial data from this study may generate new hypotheses for investigation as part of this study.
1,231 studies on the registry are indexed under Periodontitis; 295 are open to participants now.
This study's planned enrollment of 700 is above the median of 90 across 372 observational studies indexed under Periodontitis.
Browse Periodontitis studies →National Institute of Dental and Craniofacial Research (NIDCR) is the lead sponsor of 94 studies on the registry; 9 are open to participants now.
Of its 8 completed or terminated interventional studies of FDA-regulated products, 5 (63%) have results posted.
Compared within Periodontitis, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Periodontal Diseases. The counts are of registry records indexed under each term, refreshed daily. How we classify →
This is a cross sectional/natural history protocol designed to investigate the clinical, microbiologic, and immunologic consequences of genetic immune defects in the oral cavity. Three cohorts will be enrolled 1) subjects with genetic immune defects 2) subjects with severe periodontitis of suspected genetic etiology and their family members 3) healthy volunteers (with/without periodontal disease). The study involves detailed oral clinical and radiographic evaluations, standard laboratory testing and research sampling of blood and oral samples. All evaluations are performed at the NIH Clinical Center.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Subjects with Genetic Immune Defects:
Patients with a known genetic immune defect will be eligible for screening inclusion under this protocol.
Willing to allow genetic testing
Subjects with Severe Periodontitis of Suspected Genetic Etiology:
Willing to allow genetic testing
->=7 years old
Family members of Subjects with Severe Periodontitis of Suspected Genetic Etiology:
-Willing to allow genetic testing
->=7 years old
Healthy Volunteer Subjects (with/without periodontitis):
In good general health
->=18 years old
Inclusion Criteria for Natural History phase, all subjects:
Criteria for standard of care treatment:
EXCLUSION CRITERIA:
All Subjects:
Additional Exclusions for Healthy Volunteers:
In the 3 months before study enrollment, have used any of the following:
Additional Exclusions for Standard of Care Treatment at NIH:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
A blood test of average blood sugar over the past two to three months, given as a percentage or in mmol/mol. 6.5% (48 mmol/mol) or more is the usual threshold for diabetes, normally confirmed by a second test.
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Hepatitis B tests
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HbA1c
A blood test of average blood sugar over the past two to three months, given as a percentage or in mmol/mol. 6.5% (48 mmol/mol) or more is the usual threshold for diabetes, normally confirmed by a second test.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Autoimmune disease
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Immunosuppression
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Healthy volunteers (with/without periodontal disease)
Subjects with known genetic immune deficiency
Subjects with severe periodontitis of suspected genetic etiology and their family members
3. Characterize the microbiome in the oral cavity of patients with genetic immune defects
The primary clinical endpoints of the study are severity and types of oral disease: specifically for periodontal disease, mean PD, mean CAL, proportion of sites with PD \>5 mm, and proportion of subjects with BOP, proportion of patient with other inflammatory conditions or infections of the oral cavity by immune disorder.Characterization of the oral microbiome in patients with monogenic immune defects. Immunologic endpoints: types and levels of immune mediators in the saliva, GCF, oral tissues, and/or blood.
Time frame: 25 years
2. Characterize the immune response in the oral cavity of patients with genetic immune defects
The primary clinical endpoints of the study are severity and types of oral disease: specifically for periodontal disease, mean PD, mean CAL, proportion of sites with PD \>5 mm, and proportion of subjects with BOP, proportion of patient with other inflammatory conditions or infections of the oral cavity by immune disorder.Characterization of the oral microbiome in patients with monogenic immune defects. Immunologic endpoints: types and levels of immune mediators in the saliva, GCF, oral tissues, and/or blood.
Time frame: 25 years
1. Clinical intraoral characterization (i.e., presence and severity of periodontitis).
The primary clinical endpoints of the study are severity and types of oral disease: specifically for periodontal disease, mean PD, mean CAL, proportion of sites with PD \>5 mm, and proportion of subjects with BOP, proportion of patient with other inflammatory conditions or infections of the oral cavity by immune disorder.Characterization of the oral microbiome in patients with monogenic immune defects. Immunologic endpoints: types and levels of immune mediators in the saliva, GCF, oral tissues, and/or blood.
Time frame: 25 years
2. Establishment of normative values for immune mediators and microbial elements at the oral cavity
Validate methodologies for measuring levels of immune mediators in oral fluids - Establish normative values of immune mediators in oral fluids and tissues - Assay development; Develop new methodologies to study pathways of the immune response in the oral cavity - Assay development: Develop new methodologies to study the microbiome in the oral cavity
Time frame: 25 years
1. Assay development/validation for the study of tissue immunity and microbiome characterization
Validate methodologies for measuring levels of immune mediators in oral fluids - Establish normative values of immune mediators in oral fluids and tissues - Assay development; Develop new methodologies to study pathways of the immune response in the oral cavity - Assay development: Develop new methodologies to study the microbiome in the oral cavity
Time frame: 25 years
Plan to share: Undecided
Started Oct 2012 (actual).
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
National Institute of Dental and Craniofacial Research (NIDCR) →