NCT01568697

Brief Summary

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
700

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 30, 2012

Completed
3 days until next milestone

First Posted

Study publicly available on registry

April 2, 2012

Completed
6 months until next milestone

Study Start

First participant enrolled

October 5, 2012

Completed
Last Updated

June 8, 2026

Status Verified

April 28, 2026

First QC Date

March 30, 2012

Last Update Submit

June 5, 2026

Conditions

Healthy SubjectsHealthy VolunteerPeriodontal DiseaseImmunosuppression

Keywords

MicrobiomePeriodontitisOral Mucosal ImmunityOral InfectionNatural HistoryImmune DisorderPeriodontal DiseaseGum DiseaseHealthy VolunteerHV

Outcome Measures

Primary Outcomes (3)

  • 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.

    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.

    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.

    25 years

Secondary Outcomes (2)

  • 2. Establishment of normative values for immune mediators and microbial elements at the oral cavity

    25 years

  • 1. Assay development/validation for the study of tissue immunity and microbiome characterization

    25 years

Study Arms (3)

Healthy Volunteers

Healthy volunteers (with/without periodontal disease)

Immune deficient patients

Subjects with known genetic immune deficiency

Subjects with severe periodontitis of suspected genetic etiology and their family

Subjects with severe periodontitis of suspected genetic etiology and their family members

Eligibility Criteria

Age7 Years - 100 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study 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.

You may qualify if:

  • Subjects with Genetic Immune Defects:
  • Diagnosed with a genetic immune defect
  • Willing to allow genetic testing
  • years old
  • Subjects with Severe Periodontitis of Suspected Genetic Etiology:
  • History of severe periodontitis prior to age \<30
  • Willing to allow genetic testing
  • \>=7 years old
  • In good general health
  • 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
  • +7 more criteria

You may not qualify if:

  • All Subjects:
  • 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
  • Have been treated with systemic chemotherapeutics or radiation therapy within 5 years of screening
  • Pregnant or lactating
  • If participation in the protocol would not be safe or in the subject s best interest in the opinion of either the PI or the primary medical team.
  • Diagnosis of diabetes and/or HbA1C level \>6%
  • More than 3 hospitalizations in the last 3years
  • Have an autoimmune disorder such as Lupus, Rheumatoid arthritis, etc.
  • In the 3 months before study enrollment, have used any of the following:
  • Systemic (intravenous, intramuscular, or oral) antibiotics
  • Oral, intravenous, intramuscular, intranasal, or inhaled corticosteroids or other immunosuppressants (e.g., cyclosporine)
  • Cytokine therapy
  • +8 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (4)

  • Rescigno M. The intestinal epithelial barrier in the control of homeostasis and immunity. Trends Immunol. 2011 Jun;32(6):256-64. doi: 10.1016/j.it.2011.04.003. Epub 2011 May 11.

    PMID: 21565554BACKGROUND

  • Novak N, Haberstok J, Bieber T, Allam JP. The immune privilege of the oral mucosa. Trends Mol Med. 2008 May;14(5):191-8. doi: 10.1016/j.molmed.2008.03.001. Epub 2008 Apr 7.

    PMID: 18396104BACKGROUND

  • Maslowski KM, Mackay CR. Diet, gut microbiota and immune responses. Nat Immunol. 2011 Jan;12(1):5-9. doi: 10.1038/ni0111-5.

    PMID: 21169997BACKGROUND

  • Williams DW, Greenwell-Wild T, Brenchley L, Dutzan N, Overmiller A, Sawaya AP, Webb S, Martin D; NIDCD/NIDCR Genomics and Computational Biology Core; Hajishengallis G, Divaris K, Morasso M, Haniffa M, Moutsopoulos NM. Human oral mucosa cell atlas reveals a stromal-neutrophil axis regulating tissue immunity. Cell. 2021 Jul 22;184(15):4090-4104.e15. doi: 10.1016/j.cell.2021.05.013. Epub 2021 Jun 14.

    PMID: 34129837DERIVED

Related Links

MeSH Terms

Conditions

Periodontal DiseasesPeriodontitisImmune System DiseasesGingival Diseases

Condition Hierarchy (Ancestors)

Mouth DiseasesStomatognathic Diseases

Study Officials

  • Niki M Moutsopoulos, D.D.S.

    National Institute of Dental and Craniofacial Research (NIDCR)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Laurie D Brenchley, R.D.H.

CONTACT

(301) 451-2551laurie.brenchley@nih.gov

Niki M Moutsopoulos, D.D.S.

CONTACT

(301) 435-7182nmoutsop@mail.nih.gov

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 30, 2012

First Posted

April 2, 2012

Study Start

October 5, 2012

Last Updated

June 8, 2026

Record last verified: 2026-04-28

Locations

US(1)