Characterization of Diseases With Salivary Gland Involvement
Characterization of Diseases With Salivary Gland Involvement
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
This protocol is intended to allow disease-specific investigations in subjects with
 presentations of diseases with salivary gland involvement and will enable the collection of
 data, biological fluids and tissue samples from those subjects, their family members and
 normal controls, in order to assist our studies of understanding salivary gland disease
 pathophysiology. The exocrine salivary glands, by secreting saliva, play a critical role in
 the homeostasis of the oral cavity, which is the initial part of the gastrointestinal track.
 Several diseases including Parkinson s and systemic amyloidosis can be diagnosed through
 biopsies of easily accessible salivary glands. Moreover, several drugs and systemic diseases
 cause salivary gland hypofunction through unknown mechanisms.

 We may evaluate participants with complaints of dry mouth to determine the cause and severity
 of their salivary gland dysfunction and their possible eligibility for other NIDCR protocols.
 Salivary secretions have antibacterial, lubricating, remineralizing, digestive, buffering and
 cleansing properties. Impaired function of these glands can cause an increase in tooth decay;
 a variety of oral hard and soft tissue changes, with painful, burning or ulcerated or oral
 mucosa; problems chewing, swallowing and speaking; and diminished taste and smell.

 This protocol will provide us with the opportunity to learn from a variety of pathologies
 that involve directly or indirectly the salivary glands, expand our knowledge about these
 disorders and provide access to patients of interest for research, teaching, and clinical
 experience. Information obtained through this protocol may lead to potential innovative
 therapeutic studies. In addition to its role in investigating individuals who are of interest
 to the Sj(SqrRoot)(Delta)gren s syndrome (SS) and Salivary Gland Dysfunction Unit of the MPTB
 of NIDCR, this protocol can provide a possible avenue for enrolling subjects from other NIH
 programs or other NIH protocols that exhibit signs or symptoms associated with the salivary
 glands dysfunction.
-  INCLUSION CRITERIA:

 -  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.

 EXCLUSION CRITERIA:

 -  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.

 -  Specific only to the immune checkpoint inhibitor patients, oral cancer as a
 serious concurrent medical condition, will not serve as an exclusion criteria.

 -  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.

 -  Additional exclusion criteria for Healthy Volunteers (HV):

 -  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