Birt-Hogg-Dube Syndrome
Conditions
Brief summary
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.
Interventions
OTHERNon-Interventional Study
Sponsors
Rare Diseases Clinical Research Network
National Heart, Lung, and Blood Institute (NHLBI)
University of Cincinnati
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Patients With Birt-Hogg-Dube Syndrome Who Experienced Spontaneous Pneumothorax During or Within 24 Hours Following Air Travel | During air travel 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Patients With Birt-Hogg-Dube Syndrome Who Experience a Spontaneous Pneumothorax | 3 years | The investigators will catalogue the number of spontaneous pneumothoraces experienced by patients with Birt-Hogg-Dube syndrome. |
| Number of Patients With Birt-Hogg-Dube Syndrome Who Experience Recurrent Pneumothorax Following Pleurodesis | 3 years | 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). |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Patients Self-reporting With BHD Patients self-reporting with BHD | 104 |
| Total | 104 |
Baseline characteristics
| Characteristic | Patients Self-reporting With BHD | — |
|---|---|---|
| Age, Continuous | 50 years | — |
| Number of Participants with a History of Air Travel | 99 participants | — |
| Race and Ethnicity Not Collected | — | — Participants |
| Region of Enrollment United States | 104 Participants | — |
| Sex: Female, Male Female | 86 Participants | — |
| Sex: Female, Male Male | 18 Participants | — |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 0 |
| other Total, other adverse events | 0 / 0 |
| serious Total, serious adverse events | 0 / 0 |
Outcome results
Primary
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
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| BHD Patients With Air Travel Related Pneumothorax | Number of Patients With Birt-Hogg-Dube Syndrome Who Experienced Spontaneous Pneumothorax During or Within 24 Hours Following Air Travel | 8 Participants |
Secondary
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
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| BHD Patients With Air Travel Related Pneumothorax | Number of Patients With Birt-Hogg-Dube Syndrome Who Experience a Spontaneous Pneumothorax | 79 Participants |
Secondary
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).
Time frame: 3 years
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| BHD Patients With Air Travel Related Pneumothorax | Number of Patients With Birt-Hogg-Dube Syndrome Who Experience Recurrent Pneumothorax Following Pleurodesis | 29 Participants |