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Storia naturale del tumore carcinoide familiare

6 novembre 2026 aggiornato da: 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.

...

Panoramica dello studio

Stato

Reclutamento

Condizioni

Intervento / Trattamento

Descrizione dettagliata

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.

Tipo di studio

Osservativo

Iscrizione (Stimato)

1600

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

Backup dei contatti dello studio

Luoghi di studio

  • Stati Uniti
    • Maryland
      • Bethesda, Maryland, Stati Uniti, 20892
        • Reclutamento
        • National Institutes of Health Clinical Center
        • Contatto:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Numero di telefono: TTY dial 711 800-411-1222
          • Email: ccopr@nih.gov

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

Da 18 anni a 100 anni (Adulto, Adulto più anziano)

Accetta volontari sani

No

Sessi ammissibili allo studio

Tutto

Metodo di campionamento

Campione di probabilità

Popolazione di studio

Community sample

Descrizione

  • 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)

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

  • Modelli osservazionali: FAMILY_BASED
  • Prospettive temporali: PROSPECTIVE

Coorti e interventi

Gruppo / Coorte
Intervento / Trattamento
Arm 1

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

18F-DOPA PET/CT Scan.
Arm 2

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

18F-DOPA PET/CT Scan.

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Study the natural history of familial carcinoid tumors
Lasso di tempo: 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

Misure di risultato secondarie

Misura del risultato
Misura Descrizione
Lasso di tempo
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 ...
Lasso di tempo: 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
Lasso di tempo: 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)
Lasso di tempo: 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
Lasso di tempo: End of study

Change in survival
End of study

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

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

Investigatori

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

Pubblicazioni e link utili

La persona responsabile dell'inserimento delle informazioni sullo studio fornisce volontariamente queste pubblicazioni. Questi possono riguardare qualsiasi cosa relativa allo studio.

Pubblicazioni generali

Collegamenti utili

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Effettivo)

25 agosto 2008

Date di iscrizione allo studio

Primo inviato

26 marzo 2008

Primo inviato che soddisfa i criteri di controllo qualità

26 marzo 2008

Primo Inserito (Stimato)

28 marzo 2008

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

9 novembre 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

6 novembre 2026

Ultimo verificato

22 ottobre 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

  • 080098
  • 08-DK-0098

Piano per i dati dei singoli partecipanti (IPD)

Hai intenzione di condividere i dati dei singoli partecipanti (IPD)?

NO

Informazioni su farmaci e dispositivi, documenti di studio

Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti

Sì

Studia un dispositivo regolamentato dalla FDA degli Stati Uniti

No

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .

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