Immunological Perturbation in Patients with Birt-Hogg-Dube Syndrome


  • Study type

  • Study IDs

  • Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
  • Site IRB
    • Rochester, Minnesota: 18-001765
    Sponsor Protocol Number: 18-001765

About this study

The purpose of this study is to determine whether FLCN mutations affect immune cell homeostasis and function.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

See eligibility criteria

Inclusion Criteria:

  • Clinically confirmed Birt-Hogg-Dube (BHD) syndrome
  • Specific FLCN mutations include c.1285dupC (p.His429ProfsX27), c.715C>T (p.Arg239Cys), c.764A>C (p.His255Pro), and c.610_611delGCinsTA (p.Ala204X).

Exclusion Criteria: 

  • Patients without above FLCN mutations.


Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Hu Zeng, Ph.D.

Open for enrollment

Contact information:

Danielle Vsetecka


More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


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