About this trial

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:

* Children and adults at least 7 years of age who have genetic problems with their immune system. * Healthy adults that have periodontal disease * Health adults that do not have periodontal disease

Design:

* This study will involve a screening visit and a study visit. * Participants will be screened with a medical history, blood work and a full oral and dental exam, including dental x-rays and photos. * The study visit will involve collection of blood, urine, and other samples, including saliva, plaque, and gum swabs. Any abnormal tissue will sampled for a biopsy. Additional oral and dental exams will be performed. Participants will also answer questions about any current medical or dental problems.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Diagnosed with a genetic immune defect

Willing to allow genetic testing

7 years old

History of severe periodontitis prior to age <30

Disqualifiers

History of Hepatitis B or C

History of HIV

Prior radiation therapy to the head or neck

Have an active malignancy except localized basal or squamous cell carcinoma of the skin

Trial population

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.

Trial design

Design model

Case-control

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

700 Participants

are grouped into 3 trial groups

Group A: Healthy Volunteers

Group B: Immune deficient patients

Group C: Subjects with severe periodontitis of suspected genetic etiology and their family

Trial outcomes

Primary outcomes

1

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

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

3

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

Secondary outcomes

1

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

2

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

Oral Bacteria and Immune System Problems Involved in Gum Disease (Periodontitis)

About this trial

Eligibility criteria

Qualifiers

Disqualifiers

Trial population

Trial design

Treatments tested in this trial

Trial groups

Trial outcomes

Primary outcomes

Secondary outcomes

Other outcomes

Sponsors and contacts