Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome

University of Cincinnati104 enrolled

Overview

The aim of this study is to conduct survey-based assessments for the safety of air travel in patients with Birt-Hogg-Dube syndrome (BHD). The study will enroll patients through the clinic network at Rare Lung Disease Consortium (RLDC) and through the BHD foundation website. Patients will have access to the questionnaire via REDCap (an online data management system) and each patient will be provided with a link to complete the survey. The investigators plan on enrolling approximately 100 patients with BHD for the purpose of this study. Secondary aims of this study include further characterization of the clinical aspects of disease and to establish a contact registry for these patients, in order to facilitate future studies.

Study Type

OBSERVATIONAL

Enrollment

104

Conditions

Birt-Hogg-Dube Syndrome

Interventions

Non-Interventional StudyOTHER

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Adult, age 18 or older * English literate * Signed, dated informed consent; either given electronically or via paper form * Diagnosis of BHD confirmed by either a) the presence of fibrofolliculomas/trichodiscomas on skin biopsy, or b) the presence of pathogenic FLCN mutations. Exclusion Criteria: * Inability to give informed consent

Outcomes

Primary Outcomes

Number of Patients With Birt-Hogg-Dube Syndrome Who Experienced Spontaneous Pneumothorax During or Within 24 Hours Following Air Travel

The investigators will measure the number of pneumothoraces that occur either during air travel, or within 24 hours of air travel among patients with Birt-Hogg-Dube syndrome. The incidence of air travel related pneumothorax will be calculated by dividing the number of pneumothoraces to the total number of flights undertaken by the entire cohort.

Time frame: During air travel or within 24 hours following air travel

Secondary Outcomes

Number of Patients With Birt-Hogg-Dube Syndrome Who Experience a Spontaneous Pneumothorax

The investigators will catalogue the number of spontaneous pneumothoraces experienced by patients with Birt-Hogg-Dube syndrome.

Time frame: 3 years

Number of Patients With Birt-Hogg-Dube Syndrome Who Experience Recurrent Pneumothorax Following Pleurodesis

The investigators will measure the incidence of ipsilateral pneumothorax following pleurodesis in order to determine the efficacy (as measured by the rate of pneumothorax recurrence following pleurodesis).