Evaluating and Treating Potential Research Participants With Digestive Disorders

The National Institute of Nursing Research (NINR) is conducting a protocol to evaluate and
provide standard treatment to participants with various diagnosed and undiagnosed digestive
conditions. Investigators of this protocol provide GI consultation at the NIH Clinical Center
for a range of GI conditions.

Objectives: The primary objective of this protocol is to allow digestive care specialists in
NINR and other institutions to provide standard of care. Evaluating and treating participants
will allow digestive care specialists to maintain their expertise and gain additional
knowledge of the course of various digestive disorders. Additionally this protocol will allow
for hypothesis generation and provide a resource of patients for enrollment into new research
protocols throughout the NINR branches. The information obtained will allow for the
evaluation of standard treatments of the studied digestive diseases. This understanding may
lead to ideas for future protocols. The protocol will also allow for trainees to receive
training in the management of digestive disorders.

Study Population: The number of participants for this evaluation and treatment protocol will
be set to 500 patients with digestive disorders and their unaffected first-degree relatives.

Design: This is a natural history evaluation and treatment protocol of the progression and
physiology of multiple digestive disorders. Blood or other biologic samples (including but
not limited to stool, urine, saliva, hair, cheek swab, or tissue) will be obtained through
non-invasive means or incidentally to clinical care for future laboratory studies. In
addition, genetic samples may be collected from unaffected first-degree relatives and may be
used to identify and verify causative mutations.

Outcome Measures: The outcome measures for this protocol are the clinical assessments of
enrolled participants, including their response to standard treatments. Also, causative
mutations may help establish pathogenic mechanisms and genotype-phenotype correlations.

- INCLUSION CRITERIA:

This protocol will include participants from birth and has no upper age limit.

Participants will be eligible if they:

1. Have either a digestive disorder, OR

2. Are an unaffected first-degree relative ( >2 years old) of a participant with a
digestive disorder.

EXCLUSION CRITERIA:

Participants will not be eligible if they:

1. Are unwilling to give informed consent or, if a minor, do not have a parent or
guardian able to provide consent, cannot assign a Durable Power of Attorney (DPA) or
if a minor, do not have a parent or guardian able to provide consent.

2. Have a systemic disease that, in the judgment of the investigators, compromises the
ability to obtain research data.

3. NINR employees, subordinates/relatives/ or co-workers

4. Any NIH employess who is a subordinate/relative/or co-worker of a study investigator