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Naturhistorie af familiær carcinoid tumor

4. november 2026 opdateret af: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

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.

Studieoversigt

Status

Rekruttering

Betingelser

Intervention / Behandling

Detaljeret beskrivelse

Study Description:

This study is designed as a prospective evaluation for diagnostic screening, genotyping and natural history of participants belonging to kindreds with familial carcinoid tumor.

Objectives:

Primary Objective:

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.

Secondary Objectives:

  • Screen for occult disease and determine whether early detection affects the natural history of the disease.
  • Compare the sensitivity and specificity of various imaging tomography (CT) with IV contrast and oral Breeza, 18F-DOPA PET/CT scan, [68Ga] DOTATATE PET/CT scan and endoscopic modalities for diagnosing and following carcinoid tumors.
  • Collect tumor specimens for histologic evaluation, culturing of intestinal organoids, and genotyping (including DNA and RNA sequencing).
  • 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.

Undersøgelsestype

Observationel

Tilmelding (Anslået)

1600

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Undersøgelse Kontakt Backup

Studiesteder

  • Forenede Stater
    • Maryland
      • Bethesda, Maryland, Forenede Stater, 20892
        • Rekruttering
        • National Institutes of Health Clinical Center
        • Kontakt:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Telefonnummer: TTY dial 711 800-411-1222
          • E-mail: ccopr@nih.gov

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

18 år til 100 år (Voksen, Ældre voksen)

Tager imod sunde frivillige

Ingen

Køn, der er berettiget til at studere

Alle

Prøveudtagningsmetode

Sandsynlighedsprøve

Studiebefolkning

Community sample

Beskrivelse

  • INCLUSION CRITERIA:

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

Group 4 (Arm 2 only)

  • Male and female subjects >= 18 years of age
  • Not biologically related to the participating family but has offspring who is/are blood relative(s) of a participating subject.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this

study:

  1. 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.

  2. Any condition which, in the opinion of the investigator, would make it unsafe to participate or would prohibit completion of the protocol.

  3. Inability to provide informed consent (Arm 1 only)

  4. Pregnant or breastfeeding (Arm 1 only)

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

  • Observationsmodeller: FAMILY_BASED
  • Tidsperspektiver: PROSPECTIVE

Kohorter og interventioner

Gruppe / kohorte
Intervention / Behandling
Arm 1

Participants who undergo extended evaluation for disease at NIH
Medicin: [18F]-DOPA

18F-DOPA PET/CT Scan.
Arm 2

Participants who do not undergo extended screening or evaluation for disease at NIH
Medicin: [18F]-DOPA

18F-DOPA PET/CT Scan.

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Study the natural history of familial carcinoid tumors
Tidsramme: End of study

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

Sekundære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
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 ...
Tidsramme: End of study

Enrollment of a sufficient number of subjects to allow for the determination of sensitivity and specificity for each imaging and endoscopic modality to show statistically significant superiority for one modality relative to the others
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
Tidsramme: End of study

Determination of the gene mutation responsible for the disease in each family
End of study
Collect tumor specimens for histologic evaluation, culturing of intestinal organoids, and genotyping (including DNA and RNA sequencing)
Tidsramme: End of study

Sufficient number of tumors collected to correlate disease grade with natural history of disease and assess the variability in disease grade
End of study
Screen for occult disease and determine whether early detection affects the natural history of the disease
Tidsramme: End of study

Change in survival
End of study

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Efterforskere

  • Ledende efterforsker: Stephen A Wank, M.D., National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Publikationer og nyttige links

Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.

Generelle publikationer

Hjælpsomme links

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Faktiske)

25. august 2008

Datoer for studieregistrering

Først indsendt

26. marts 2008

Først indsendt, der opfyldte QC-kriterier

26. marts 2008

Først opslået (Anslået)

28. marts 2008

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

5. november 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

4. november 2026

Sidst verificeret

22. oktober 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • 080098
  • 08-DK-0098

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

INGEN

Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter

Studerer et amerikansk FDA-reguleret lægemiddelprodukt

Ja

Studerer et amerikansk FDA-reguleret enhedsprodukt

Ingen

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