Clinical trial NCT02916992: Prevalence of Spontaneous Pneumothorax in BHD
Official title: Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: PHASE1
Conditions: Spontaneous Pneumothorax
Keywords: spontaneous pneumothorax
familial pneumothorax
Birt-Hogg-Dube syndrome
prevalence
FLCN mutation
Lung cysts
BHD
inherited disease
genetic disease
primary pneumothorax
CAT scan
CT scan
Lead sponsor: Free University Medical Center
Sponsor class: OTHER
Collaborators: name: Prof. Dr. Jaap Swieringa stichting
name: Mr. Willem Bakhuys Roozeboomstichting
name: Rijnstate Hospital
First posted: 2016-09-28
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: SCREENING

Brief summary: To assess the prevalence of BHD (Birt-Hogg-Dubé syndrome) among patients with spontaneous pneumothorax. Patients who were treated for primary spontaneous pneumothorax in Rijnstate hospital are to be included. Patients will receive a questionnaire. When given consent, the investigators will invite them for a one-time visit to the out-patient clinic. Patients will be asked for a blood sample to determine pathogenic FLCN (folliculin) mutations and a pulmonary CT scan for evaluation of presence of lung cysts.

Detailed description: Based on the results of the pilot study in VUmc \*Free University Medical Center), in which 3 out of 40 tested patients had a pathological FLCN mutation, the investigators decided to extend the study to a second center; Rijnstate Hospital Arnhem. In this hospital a retrospective search was performed; patients who were treated for primary spontaneous pneumothorax were included. In the dossiers the investigators searched for medical history, pneumothorax side and recurrence, diagnostic imaging, treatment, co-morbidity, complications of treatment, skin abnormalities, kidney disease, smoking behavior, medication, and familial incidence of pneumothorax and other diseases. Patients will receive a letter with explanation of the research and a questionnaire in which the investigators ask them their about the medical status, co-morbidity, pneumothorax (number and side), smoking behavior, use of drugs, familial incidence of pneumothorax and other diseases.

The population will be formed out of patients who have returned the fully filled in questionnaire and who have given permission to receive information for further research. This further information will consist of an information letter on BHD syndrome and a consent form for a one-time visit to the out-patient clinic of Rijnstate hospital. Investigators expect that about 200 patients will return the fully filled in questionnaire and give their consent for further research. In a one-time visit in out-patient clinic, there will be given personal information on BHD syndrome and there will be performed physical examination for finding fibrofolliculomas. A pulmonary CT scan for evaluation of presence of lung cysts will be performed. Two samples of venous blood will be collected to access information on DNA diagnostics for pathogenic FLCN mutations. These are associated with the BHD syndrome. This last diagnostic testing will be performed in VUmc (Vrije Universiteit medisch centrum or Free University Medical Centre).

Eligibility criteria: Inclusion Criteria:

* treated in Rijnstate hospital for primary spontaneous pneumothorax
* informed consent

Exclusion Criteria:

* secondary or iatrogenic pneumothorax

Primary outcomes:
measure: presence of pathogenic FLCN mutations
timeFrame: 6 months
Secondary outcomes:
measure: presence of lung cysts
timeFrame: 6 months
Other outcomes:
Locations:
city: Arnhem
country: Netherlands
facility: Rijnstate
state: Gelderland
Study officials:
affiliation: The Clatterbridge Cancer Centre
name: Pieter E. Postmus, MD, PhD
role: STUDY_CHAIR
affiliation: Rijnstate Hospital
name: Hans JM Smit, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
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