Characterization of Diseases With Salivary Gland Involvement

NCT02327884 | Recruiting

• 2 other identifiers: 15005115-D-0051
• Study Type: observational
• Target: 1,150
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Salivary glands in and around the mouth and throat make saliva. Salivary gland disorders can affect a person s quality of life. Studying people who have a disease that affects their salivary gland(s) may teach researchers about the disorders and their genetics. Objectives: \- To study salivary gland diseases and disorders. To collect data and samples from people with salivary gland problems and their relatives. Eligibility:

• People more than 4 years old who have or are suspected to have a disease involving salivary glands.
• Their relatives more than 4 years old.
• Healthy volunteers 18 years or older. Design:
• Participants may be screened with:
• Medical history
• Physical exam
• Blood and urine tests
• General oral and dental history and exam
• Saliva collection
• Eye exam and test for dry eyes
• Health questionnaires (adults)
• Biopsy of some minor salivary glands. A small incision will be made on the inside of the lower lip and several tiny salivary glands will be removed.
• Participants will have 2-3 visits. These may include:
• Repeats of some screening tests
• Ultrasounds of some glands. Researchers will put some gel on the face, then press on it with a smooth wand.
• Adults may have other biopsies
• A small catheter inserted into the opening of the parotid gland duct on the inside of the cheek. A saline solution (in a syringe) will fill the duct.
• Swishing a saltwater solution in the mouth for 10 seconds and then spitting into a cup
• Scrapings collected from teeth, tongue, and cheeks

Conditions

Healthy Volunteer; Sjogren's Syndrome; Salivary Gland Disease

Keywords

Genetics; Dry Mouth; Sjogren's Syndrome; Gland dysfunction; Induced Pluripotent Stem (iPS) Cell Lines

Outcome Measures

Primary Outcomes (1)

• hypothesis generating

  hypothesis generating

  hypothesis generating

Study Arms (3)

Group 1

Healthy Volunteers matched with Sjogren's Syndrome patients

Group 2

Family Members, affected and unaffected

Group 3

any other cause salivary gland dysfunction

Eligibility Criteria

• Age: 4 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with known or suspected Sjogren's syndrome and their family members (affected and unaffected) are potentially eligible participants. Subjects with other causes of salivary gland dysfunction (including hepatitis C) may also be potentially eligible for participation.

You may qualify if:

• Persons older than 4 years of age, affected with or suspected of being affected with a disease/disorder involving the salivary glands or who is a relative of a person who is affected with these diseases/disorders.
• Or,
• \- Persons 18 years or older with active hepatitis with or without sicca symptoms and patients undergoing immunotherapy with an immune checkpoint inhibitor for oral cancer.
• Specific to patients undergoing immunotherapy with an immune checkpoint inhibitor for threatment of oral cancer, these patients will be seen before and after check point inhibitor therapy which will coincide with 4 weeks (+/-2 weeks) before and again immediately before (+/- 2 weeks) definitive oral cancer treatment initiation (e.g., surgical resection, etc.).
• Or,
• \- Healthy persons age 18 or older, who agree to have blood, urine, saliva or tissue samples collected and studied.

You may not qualify if:

• Anyone not able to give consent/assent or parental/guardian consent
• NIH employees who report directly to the principal investigator
• Significant concurrent medical condition or other circumstances that may affect the participant s ability to tolerate or complete the study, such as concurrent chemotherapy or bleeding disorders.
• Moreover, these immune checkpoint inhibitor subjects, if unable to tolerate the study procedures, such as salivary gland biopsies, saliva collections, and/or oral exams, will be excluded as determined by the Principal Investigator.
• Pregnancy
• Sicca Symptoms
• HIV, hepatitis B or C infection
• Chronic medical illness, other than well-controlled hypertension or hyperlipidemia
• Chronic use of medications, with the exception of oral contraception, hormone replacement therapy, aspirin, antihypertensives and antilipemics

Sponsors & Collaborators

• National Institute of Dental and Craniofacial Research (NIDCR): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• Joachims ML, Khatri B, Li C, Tessneer KL, Ice JA, Stolarczyk AM, Means N, Grundahl KM, Glenn SB, Kelly JA, Lewis DM, Radfar L, Stone DU, Guthridge JM, James JA, Scofield RH, Wiley GB, Wren JD, Gaffney PM, Montgomery CG, Sivils KL, Rasmussen A, Farris AD, Adrianto I, Lessard CJ. Dysregulated long non-coding RNA in Sjogren's disease impacts both interferon and adaptive immune responses. RMD Open. 2022 Nov;8(2):e002672. doi: 10.1136/rmdopen-2022-002672.

  PMID: 36456101 DERIVED

• Yin H, Pranzatelli TJF, French BN, Zhang N, Warner BM, Chiorini JA; NIDCD/NIDCR Genomics and Computational Biology Core. Sclerosing Sialadenitis Is Associated With Salivary Gland Hypofunction and a Unique Gene Expression Profile in Sjogren's Syndrome. Front Immunol. 2021 Jul 30;12:699722. doi: 10.3389/fimmu.2021.699722. eCollection 2021.

  PMID: 34400910 DERIVED

• Tanaka T, Warner BM, Odani T, Ji Y, Mo YQ, Nakamura H, Jang SI, Yin H, Michael DG, Hirata N, Suizu F, Ishigaki S, Oliveira FR, Motta ACF, Ribeiro-Silva A, Rocha EM, Atsumi T, Noguchi M, Chiorini JA. LAMP3 induces apoptosis and autoantigen release in Sjogren's syndrome patients. Sci Rep. 2020 Sep 16;10(1):15169. doi: 10.1038/s41598-020-71669-5.

  PMID: 32939030 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Sjogren's Syndrome; Salivary Gland Diseases; Xerostomia; Ichthyosis prematurity syndrome

Condition Hierarchy (Ancestors)

Arthritis, Rheumatoid; Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Mouth Diseases; Stomatognathic Diseases; Dry Eye Syndromes; Lacrimal Apparatus Diseases; Eye Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases

Study Officials

• Margaret E Beach, P.A.-C

  National Institute of Dental and Craniofacial Research (NIDCR)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Eileen M Pelayo

CONTACT

(301) 594-3097; eileen.pelayo@nih.gov

Margaret E Beach, P.A.-C

CONTACT

(301) 451-3479; margaret.beach@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 30, 2014
• First Posted: December 31, 2014
• Study Start: April 3, 2015
• Primary Completion (Estimated): April 1, 2032
• Study Completion (Estimated): April 1, 2032
• Last Updated: April 29, 2026

Record last verified: 2026-03-17

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF, ANALYTIC CODE
• Time Frame: The time frame is at the time of publication or within a year of study completion.
• Access Criteria: The information will be shared publicly. No restrictions.

Locations

US (1)