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Genetisk analyse af Birt Hogg-Dubes syndrom og karakterisering af disposition for nyrekræft

28. oktober 2026 opdateret af: National Cancer Institute (NCI)

Birt-Hogg-Dub(SqrRoot)(Copyright)-syndrom: Karakterisering af FLCN-sygdomsgenet og disposition for nyrekræft, kutan fibrofolliculom og lungecyster

This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer. BHD is a rare inherited condition characterized by papules, or bumps-benign tumors involving hair follicles-on the head and neck. People with BHD are at increased risk of developing kidney cancer. Scientists have identified the chromosome (strand of genetic material in the cell nucleus) that contains the BHD gene and the region of the gene on the chromosome. This study will try to learn more about:

  • The characteristics and type of kidney tumors associated with BHD
  • The risk of kidney cancer in people with BHD
  • Whether more than one gene causes BHD
  • The genetic mutations (changes) responsible for BHD

Individuals with known or suspected Birt Hogg-Dube syndrome, and their family members, may be eligible for this study. Candidates will be screened with a family history and review of medical records, including pathology reports for tumors, and films of computed tomography (CT) and magnetic resonance imaging (MRI) scans.

Participants may undergo various tests and procedures, including the following:

  • Physical examination
  • Review of personal and family history with a cancer doctor, cancer nurses, kidney surgeon, and genetic counselor
  • Chest and other x-rays
  • Ultrasound (imaging study using sound waves)
  • MRI (imaging study using radiowaves and a magnetic field)
  • CT scans of the chest and abdomen (imaging studies using radiation)
  • Blood tests for blood chemistries and genetic testing
  • Skin evaluation, including a skin biopsy (surgical removal of a small skin tissue sample for microscopic evaluation)
  • Cheek swab or mouthwash to collect cells for genetic analysis
  • Lung function studies
  • Medical photography of skin lesions

These tests will be done on an outpatient basis in either one day or over 3 to 4 days. When the studies are complete, participants will receive counseling about the findings and recommendations. Individuals with kidney lesions may be asked to return periodically, such as every 3 to 36 months, based on their individual condition, to document the rate of progression of the lesions.

...

Studieoversigt

Status

Rekruttering

Betingelser

Detaljeret beskrivelse

Background:

  • Birt-Hogg-Dube (BHD) is a rare, autosomal dominantly inherited disorder which confers susceptibility to develop multifocal, bilateral renal cancer, spontaneous pneumothorax and fibrofolliculomas.
  • BHD is caused by mutations in the FLCN gene located on Chromosome17p11.2
  • Defining the genetic and biochemical pathways leading to renal tumorigenesis in BHD may lead to the development of new molecularly targeted drugs.

Objectives:

  • To define the types and characteristics (including patterns of growth) of renal cancer associated with BHD
  • To determine the risk of renal cancer, lung cysts and fibrofolliculomas in individuals with BHD
  • To define the natural history of BHD related renal tumors
  • To determine if other genes contribute to BHD
  • Identify genotype/phenotype correlations

Eligibility:

-Individuals that meet one or more of the following criteria:

--Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:

  • Individuals with histologically confirmed fibrofolliculomas
  • Individuals with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer
  • Individuals with a known germline FLCN mutation

or

--Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma

or

--Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD

Design:

  • These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
  • Genetic testing will be offered to gain appreciation of the effect of mutations the BHD gene and to assess the relative activity of various germline and somatic mutations.
  • We will determine if there is a relationship between mutation and disease manifestations and phenotype.

Undersøgelsestype

Observationel

Tilmelding (Anslået)

950

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

2 år og ældre (Barn, Voksen, Ældre voksen)

Tager imod sunde frivillige

Ja

Køn, der er berettiget til at studere

Alle

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

Individuals with histologically confirmed fibrofolliculomas, individuals with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer, a biological relative of an individual with a confirmed diagnosis of BHD. Individuals with a known germline FLCN mutation

Beskrivelse

  • INCLUSION CRITERIA:

Individuals that meet one or more of the following criteria:

-Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:

--Individuals with at least one histologically confirmed fibrofolliculomas;

or

--Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer;

or

--Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer;

or

--Individuals with a known germline FLCN gene mutation

OR

-Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma.

OR

  • Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.

    -Participants must be >= 2 years of age.

  • For children less than 18 years of age, parental permission or legal guardian consent will be obtained.

EXCLUSION CRITERIA:

None.

Studieplan

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

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

  • Observationsmodeller: COHORT
  • Tidsperspektiver: PROSPECTIVE

Kohorter og interventioner

Gruppe / kohorte
Family Members

A relative of an individual with a confirmed or suspected diagnosis of BHD (related by blood)
Individuals

Individuals with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD
Non-Biologic Family Members

Spouses enrolled primarily for linkage analysis (Spouses have been removed from the inclusion criteria for this study. This closed cohort has been created for spouses previously enrolled on study.)

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Identify genotype / phenotype correlations.
Tidsramme: on-going

Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD.
Tidsramme: on-going

Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Determine if other genes contribute to BHD.
Tidsramme: on-going

Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Define types and characteristics (including patterns of growth) of renal cancer associated with BHD.
Tidsramme: on-going

Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Define the natural history of BHD related renal tumors.
Tidsramme: on-going

Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going

Samarbejdspartnere og efterforskere

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

Sponsor

National Cancer Institute (NCI)

Efterforskere

  • Ledende efterforsker: W. Marston Linehan, M.D., National Cancer Institute (NCI)

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.

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)

13. maj 2002

Datoer for studieregistrering

Først indsendt

5. april 2002

Først indsendt, der opfyldte QC-kriterier

5. april 2002

Først opslået (Anslået)

8. april 2002

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

29. oktober 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

28. oktober 2026

Sidst verificeret

13. oktober 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • 020159
  • 02-C-0159

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

JA

IPD-planbeskrivelse

All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.

IPD-delingstidsramme

Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.

IPD-delingsadgangskriterier

Clinical data will be made available via subscription to BTRIS and with the permission of the study PI.@@@@@@Genomic data are made available via dbGaP through requests to the data custodians.

IPD-deling Understøttende informationstype

  • STUDY_PROTOCOL
  • SAP
  • ICF

Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter

Studerer et amerikansk FDA-reguleret lægemiddelprodukt

Ingen

Studerer et amerikansk FDA-reguleret enhedsprodukt

Ingen

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