Denne siden ble automatisk oversatt og nøyaktigheten av oversettelsen er ikke garantert. Vennligst referer til engelsk versjon for en kildetekst.

Genetisk analyse av Birt Hogg-Dube syndrom og karakterisering av disposisjon for nyrekreft

28. oktober 2026 oppdatert av: National Cancer Institute (NCI)

Birt-Hogg-Dub(SqrRoot)(Copyright) Syndrome: Karakterisering av FLCN-sykdomsgenet og disposisjon for nyrekreft, kutan fibrofollikulom 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.

...

Studieoversikt

Status

Rekruttering

Forhold

Detaljert 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.

Studietype

Observasjonsmessig

Registrering (Antatt)

950

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studer Kontakt Backup

Studiesteder

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

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

2 år og eldre (Barn, Voksen, Eldre voksen)

Tar imot friske frivillige

Ja

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

  • Observasjonsmodeller: COHORT
  • Tidsperspektiver: PROSPECTIVE

Kohorter og intervensjoner

Gruppe / Kohort
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.)

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
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

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

National Cancer Institute (NCI)

Etterforskere

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

Publikasjoner og nyttige lenker

Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.

Hjelpsomme linker

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

13. mai 2002

Datoer for studieregistrering

Først innsendt

5. april 2002

Først innsendt som oppfylte QC-kriteriene

5. april 2002

Først lagt ut (Antatt)

8. april 2002

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

29. oktober 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

28. oktober 2026

Sist bekreftet

13. oktober 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • 020159
  • 02-C-0159

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (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.

Tilgangskriterier for IPD-deling

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 Støtteinformasjonstype

  • STUDY_PROTOCOL
  • SEVJE
  • ICF

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .

Abonnere