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

Study Overview
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Brief Summary
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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.

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

Conditions
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Birt-Hogg-Dube Syndrome

Intervention / Treatment
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* Other: Non-Interventional Study


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Non-Interventional Study|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence of 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. | 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rate of recurrent pneumothorax in patients with Birt-Hogg-Dube syndrome | The investigators will catalogue the number roof spontaneous pneumothoraces experienced by patients with Birt-Hogg-Dube syndrome. These results will be used to calculate the proportion of patients who experience at least one recurrence of their pneumothorax, as well as the average number of pneumothoraces experienced per patient. | 3 years | 
| Efficacy of pleurodesis in reducing the risk of recurrent pneumothoraces in Birt-Hogg-Dube syndrome | 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). These results will be calculated separately for chemical and surgical pleurodesis. | 3 years |