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História Natural do Tumor Carcinóide Familiar

10 de novembro de 2026 atualizado por: 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.

Visão geral do estudo

Status

Recrutamento

Condições

Intervenção / Tratamento

Descrição detalhada

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 de estudo

Observacional

Inscrição (Estimado)

1600

Contactos e Locais

Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.

Contato de estudo

Estude backup de contato

Locais de estudo

  • Estados Unidos
    • Maryland
      • Bethesda, Maryland, Estados Unidos, 20892
        • Recrutamento
        • National Institutes of Health Clinical Center
        • Contato:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Número de telefone: TTY dial 711 800-411-1222
          • E-mail: ccopr@nih.gov

Critérios de participação

Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.

Critérios de elegibilidade

Idades elegíveis para estudo

18 anos a 100 anos (Adulto, Adulto mais velho)

Aceita Voluntários Saudáveis

Não

Gêneros Elegíveis para o Estudo

Tudo

Método de amostragem

Amostra de Probabilidade

População do estudo

Community sample

Descrição

  • 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)

Plano de estudo

Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.

Como o estudo é projetado?

Detalhes do projeto

  • Modelos de observação: FAMILY_BASED
  • Perspectivas de Tempo: PROSPECTIVE

Coortes e Intervenções

Grupo / Coorte
Intervenção / Tratamento
Arm 1

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

18F-DOPA PET/CT Scan.
Arm 2

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

18F-DOPA PET/CT Scan.

O que o estudo está medindo?

Medidas de resultados primários

Medida de resultado
Descrição da medida
Prazo
Study the natural history of familial carcinoid tumors
Prazo: 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

Medidas de resultados secundários

Medida de resultado
Descrição da medida
Prazo
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 ...
Prazo: 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
Prazo: 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)
Prazo: 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
Prazo: End of study

Change in survival
End of study

Colaboradores e Investigadores

É aqui que você encontrará pessoas e organizações envolvidas com este estudo.

Patrocinador

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

Investigadores

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

Publicações e links úteis

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Publicações Gerais

Links úteis

Datas de registro do estudo

Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados ​​pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.

Datas Principais do Estudo

Início do estudo (Real)

25 de agosto de 2008

Datas de inscrição no estudo

Enviado pela primeira vez

26 de março de 2008

Enviado pela primeira vez que atendeu aos critérios de CQ

26 de março de 2008

Primeira postagem (Estimado)

28 de março de 2008

Atualizações de registro de estudo

Última Atualização Postada (Real)

12 de novembro de 2026

Última atualização enviada que atendeu aos critérios de controle de qualidade

10 de novembro de 2026

Última verificação

22 de outubro de 2026

Mais Informações

Termos relacionados a este estudo

Palavras-chave

Termos MeSH relevantes adicionais

Outros números de identificação do estudo

  • 080098
  • 08-DK-0098

Plano para dados de participantes individuais (IPD)

Planeja compartilhar dados de participantes individuais (IPD)?

NÃO

Informações sobre medicamentos e dispositivos, documentos de estudo

Estuda um medicamento regulamentado pela FDA dos EUA

Sim

Estuda um produto de dispositivo regulamentado pela FDA dos EUA

Não

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