Natural History of Familial Carcinoid Tumor
2 other identifiers
observational
1,600
1 country
1
Brief Summary
This study will evaluate members in families with a history of small bowel carcinoid cancer to study the natural history of those family members that have the disease, determine ways to improve early detection by performing surveillance on those at risk but without disease and to identify the gene(s) that may cause the tumors. Familial carcinoid tumors usually originate in hormone-producing cells that line the small intestine or other cells of the digestive tract. The tumors are slow-growing and usually take many years before they cause symptoms. It is known that these tumors occur more often in some families and are then passed from one generation to the next by inherited genes. Members of families, including all siblings and offspring in which two or more immediate blood relatives have had small bowel carcinoid tumors are eligible for this study. In some cases unaffected spouses of family members diagnosed with carcinoid cancer are also requested to participate by donating a sample of blood only. Participants undergo a medical evaluation every 3 years during a 3- to 5-day hospital stay at the NIH Clinical Center. All participants have a personal and family medical history obtained and undergo a physical examination, blood and urine tests. People who already have a small bowel carcinoid tumor or are at risk of developing a carcinoid tumor have some or all of the following procedures to determine the presence of carcinoid tumor and its (omit next two words- location or) spread to other areas of the body:
- Video Capsule Endoscopy: Visualization of the gastrointestinal tract by ingesting a disposable, "vitamin-pill sized" video capsule that has its own camera and light source.
- CT of the chest abdomen and pelvis with oral and IV contrast : X-ray examination of the chest, abdominal and pelvis organs.
- 18 FDOPA Positron emission tomography (PET) with CT for localization: Nuclear imaging scan to look at tumor activity.
- MRI Liver with contrast - to determine if disease has spread to liver
- Gallium 68 PET/CT-limited to individuals that have residual tumor.
- Clinical and research blood work Should mid gut carcinoid tumors be found every participant will be assisted in determine what the best course of treatment will be for them.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 26, 2008
CompletedFirst Posted
Study publicly available on registry
March 28, 2008
CompletedStudy Start
First participant enrolled
August 25, 2008
CompletedApril 29, 2026
March 13, 2026
March 26, 2008
April 28, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Study the natural history of familial carcinoid tumors
Incidence, age of onset, symptoms, the appropriate diagnostic (biochemical and imaging) modalities, location, histology and metastatic potential of the tumors, metabolic sequelae of the tumor, and clinical and biochemical prognostic factors
End of study
Secondary Outcomes (4)
Compare the sensitivity and specificity of various imaging modalities: computed tomography (CT) with IV contrast and oral Volumen, 18F-DOPA PET/CT scan, [68Ga]DOTATATE PET/CT scan and endoscopic modalities for diagnosing and following carcinoid ...
End of study
Sequester DNA from peripheral blood for genotyping (including sequencing) with the intention of localizing a susceptibility gene/s responsible for the familial occurrence of the disease
End of study
Collect tumor specimens for histologic evaluation, culturing of intestinal organoids, and genotyping (including DNA and RNA sequencing)
End of study
Screen for occult disease and determine whether early detection affects the natural history of the disease
End of study
Study Arms (2)
Arm 1
Participants who undergo extended evaluation for disease at NIH
Arm 2
Participants who do not undergo extended screening or evaluation for disease at NIH
Interventions
Eligibility Criteria
Community sample
You may qualify if:
- There are four types of participants who will be included in this protocol as outlined below.
- In order to be eligible to participate in this study, an individual must meet all of the following criteria for their group:
- Group 1 (Arm 1 or Arm 2)
- Male and female subjects \>= 18 years of age
- Have a diagnosis of small intestinal carcinoid tumor
- Have at least one blood relation with a diagnosis of either small intestinal, pulmonary, kidney or gastropancreatic neuroendocrine tumor or metastatic neuroendocrine tumor of unknown primary
- Group 2 (Arm 1 or Arm 2)
- Male and female subjects \>= 18 years of age
- Has multiple synchronous primary small intestinal tumors
- Group 3 (Arm 1 or Arm 2)
- Male and female subjects \>=18 years of age
- Does not have a diagnosis of carcinoid tumor
- Has one of the following:
- at least two blood relatives with any combination of diagnoses of small intestinal carcinoid tumor, a pulmonary, kidney, gastropancreatic neuroendocrine tumor or metastatic neuroendocrine tumor of unknown primary OR
- has at least one blood relative with multiple, synchronous primary small bowel tumors
- +3 more criteria
You may not qualify if:
- An individual who meets any of the following criteria will be excluded from participation in this
- study:
- Members of families with multiple endocrine neoplasia (MEN) I, MEN II or other familial tumor syndromes such as Von Hippel Lindau Syndrome and Neurofibromatosis type I and type II for which there is a known genetic predisposition to non-carcinoid tumors as well as
- carcinoid tumors will be excluded from the study.
- Any condition which, in the opinion of the investigator, would make it unsafe to participate or would prohibit completion of the protocol.
- Inability to provide informed consent (Arm 1 only)
- Pregnant or breastfeeding (Arm 1 only)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Publications (4)
Caplin ME, Buscombe JR, Hilson AJ, Jones AL, Watkinson AF, Burroughs AK. Carcinoid tumour. Lancet. 1998 Sep 5;352(9130):799-805. doi: 10.1016/S0140-6736(98)02286-7.
PMID: 9737302BACKGROUNDModlin IM, Lye KD, Kidd M. A 5-decade analysis of 13,715 carcinoid tumors. Cancer. 2003 Feb 15;97(4):934-59. doi: 10.1002/cncr.11105.
PMID: 12569593BACKGROUNDCapella C, Heitz PU, Hofler H, Solcia E, Kloppel G. Revised classification of neuroendocrine tumours of the lung, pancreas and gut. Virchows Arch. 1995;425(6):547-60. doi: 10.1007/BF00199342.
PMID: 7697211BACKGROUNDTang D, Lim R, Korman L, Forbes J, Ellsbury K, Auh S, Trivedi A, Chen CC, Hughes M, Wank S. Performance of capsule endoscopy for the detection of small intestinal neuroendocrine tumors in familial carcinoid: a prospective single-site study. Gastrointest Endosc. 2024 Feb;99(2):227-236. doi: 10.1016/j.gie.2023.08.024. Epub 2023 Oct 13.
PMID: 37838323DERIVED
Related Links
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Stephen A Wank, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 26, 2008
First Posted
March 28, 2008
Study Start
August 25, 2008
Last Updated
April 29, 2026
Record last verified: 2026-03-13
Data Sharing
- IPD Sharing
- Will not share