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RecruitingNot a traditional drug phaseobservationalRules rewrite

Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer

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.

Official registry: https://clinicaltrials.gov/study/NCT00033137 · National Cancer Institute (NCI) · enrollment listed as 950

What this phase means

This is an observational study. You are not assigned a new experimental drug. Researchers measure what already happens in your care or in daily life.

Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.

What the registry says happens

This listing is observational (StudyType). The registry does not assign a new experimental drug as the study intervention.

They plan to enroll about 950 people at Bethesda. Taking part typically means study visits and measurements plus check-ins.

Official title (unrewritten)

Birt-Hogg-Dub(SqrRoot)(Copyright) Syndrome: Characterization of the FLCN Disease Gene and Predisposition to Renal Cancer, Cutaneous Fibrofolliculoma and Pulmonary Cysts

Primary outcome (registry wording): Identify genotype / phenotype correlations.

Who it is for (from inclusion criteria)

  • Ages 2 Years to any
  • 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;
  • Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer;
  • Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer;
  • Individuals with a known germline FLCN gene mutation
  • Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma

Public study contact (from the registry)

Deborah A Nielsen, R.N.

(240) 760-6247

deborah.nielsen@nih.gov

Published on ClinicalTrials.gov. Contact them as a possible participant. They decide eligibility.

Sites listed on ClinicalTrials.gov

1 listed

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FAQ about this NCT record

Is NCT00033137 still recruiting?

The sponsor posted status “Recruiting” on ClinicalTrials.gov at last ingest. Sites can pause independently. Confirm with the official record and the listed contact.

What phase is NCT00033137?

Not a traditional drug phase. Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.

Can PlainTrials tell me if I qualify for NCT00033137?

No. The inclusion and exclusion lists on this page are readable extracts of the public eligibility block. Only the study team can screen you.

How to read a ClinicalTrials.gov record · Questions to ask the coordinator · Glossary