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Naturgeschichte des familiären Karzinoidtumors

10. November 2026 aktualisiert von: 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.

Studienübersicht

Status

Rekrutierung

Bedingungen

Intervention / Behandlung

Detaillierte Beschreibung

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.

Studientyp

Beobachtungs

Einschreibung (Geschätzt)

1600

Kontakte und Standorte

Dieser Abschnitt enthält die Kontaktdaten derjenigen, die die Studie durchführen, und Informationen darüber, wo diese Studie durchgeführt wird.

Studienkontakt

Studieren Sie die Kontaktsicherung

Studienorte

  • Vereinigte Staaten
    • Maryland
      • Bethesda, Maryland, Vereinigte Staaten, 20892
        • Rekrutierung
        • 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

Teilnahmekriterien

Forscher suchen nach Personen, die einer bestimmten Beschreibung entsprechen, die als Auswahlkriterien bezeichnet werden. Einige Beispiele für diese Kriterien sind der allgemeine Gesundheitszustand einer Person oder frühere Behandlungen.

Zulassungskriterien

Studienberechtigtes Alter

18 Jahre bis 100 Jahre (Erwachsene, Älterer Erwachsener)

Akzeptiert gesunde Freiwillige

Nein

Studienberechtigte Geschlechter

Alle

Probenahmeverfahren

Wahrscheinlichkeitsstichprobe

Studienpopulation

Community sample

Beschreibung

  • 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)

Studienplan

Dieser Abschnitt enthält Einzelheiten zum Studienplan, einschließlich des Studiendesigns und der Messung der Studieninhalte.

Wie ist die Studie aufgebaut?

Designdetails

  • Beobachtungsmodelle: FAMILY_BASED
  • Zeitperspektiven: PROSPECTIVE

Kohorten und Interventionen

Gruppe / Kohorte
Intervention / Behandlung
Arm 1

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

18F-DOPA PET/CT Scan.
Arm 2

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

18F-DOPA PET/CT Scan.

Was misst die Studie?

Primäre Ergebnismessungen

Ergebnis Maßnahme
Maßnahmenbeschreibung
Zeitfenster
Study the natural history of familial carcinoid tumors
Zeitfenster: 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

Sekundäre Ergebnismessungen

Ergebnis Maßnahme
Maßnahmenbeschreibung
Zeitfenster
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 ...
Zeitfenster: 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
Zeitfenster: 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)
Zeitfenster: 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
Zeitfenster: End of study

Change in survival
End of study

Mitarbeiter und Ermittler

Hier finden Sie Personen und Organisationen, die an dieser Studie beteiligt sind.

Sponsor

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

Ermittler

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

Publikationen und hilfreiche Links

Die Bereitstellung dieser Publikationen erfolgt freiwillig durch die für die Eingabe von Informationen über die Studie verantwortliche Person. Diese können sich auf alles beziehen, was mit dem Studium zu tun hat.

Allgemeine Veröffentlichungen

Nützliche Links

Studienaufzeichnungsdaten

Diese Daten verfolgen den Fortschritt der Übermittlung von Studienaufzeichnungen und zusammenfassenden Ergebnissen an ClinicalTrials.gov. Studienaufzeichnungen und gemeldete Ergebnisse werden von der National Library of Medicine (NLM) überprüft, um sicherzustellen, dass sie bestimmten Qualitätskontrollstandards entsprechen, bevor sie auf der öffentlichen Website veröffentlicht werden.

Haupttermine studieren

Studienbeginn (Tatsächlich)

25. August 2008

Studienanmeldedaten

Zuerst eingereicht

26. März 2008

Zuerst eingereicht, das die QC-Kriterien erfüllt hat

26. März 2008

Zuerst gepostet (Geschätzt)

28. März 2008

Studienaufzeichnungsaktualisierungen

Letztes Update gepostet (Tatsächlich)

12. November 2026

Letztes eingereichtes Update, das die QC-Kriterien erfüllt

10. November 2026

Zuletzt verifiziert

22. Oktober 2026

Mehr Informationen

Begriffe im Zusammenhang mit dieser Studie

Schlüsselwörter

Zusätzliche relevante MeSH-Bedingungen

Andere Studien-ID-Nummern

  • 080098
  • 08-DK-0098

Plan für individuelle Teilnehmerdaten (IPD)

Planen Sie, individuelle Teilnehmerdaten (IPD) zu teilen?

NEIN

Arzneimittel- und Geräteinformationen, Studienunterlagen

Studiert ein von der US-amerikanischen FDA reguliertes Arzneimittelprodukt

Ja

Studiert ein von der US-amerikanischen FDA reguliertes Geräteprodukt

Nein

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