Prevalence of Spontaneous Pneumothorax in BHD

Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax

Sponsors

Lead Sponsor: Hans Smit

Collaborator: Prof. Dr. Jaap Swieringa stichting
Mr. Willem Bakhuys Roozeboomstichting
Rijnstate Hospital

Source Free University Medical Center
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).

Overall Status Unknown status
Start Date 2016-09-01
Completion Date 2017-07-01
Primary Completion Date 2017-06-01
Phase Phase 1
Study Type Interventional
Primary Outcome
Measure Time Frame
presence of pathogenic FLCN mutations 6 months
Secondary Outcome
Measure Time Frame
presence of lung cysts 6 months
Enrollment 200
Condition
Intervention

Intervention Type: Radiation

Intervention Name: CT scan of the thorax

Description: A low dose CT scan of the thorax (2mSv) wil be performed once.

Intervention Type: Genetic

Intervention Name: blood sample for FLCN mutation analyses

Description: A venous punction in order to withdraw 16ml blood is undertaken once.

Eligibility

Criteria:

Inclusion Criteria: - treated in Rijnstate hospital for primary spontaneous pneumothorax - informed consent Exclusion Criteria: - secondary or iatrogenic pneumothorax

Gender:

All

Minimum Age:

18 Years

Maximum Age:

N/A

Healthy Volunteers:

No

Overall Official
Overall Contact

Last Name: Jincey D. Sriram, MD, MSc

Phone: 0880058888

Phone Ext.: 3443

Email: [email protected]

Location
Facility: Status: Contact: Contact Backup: Rijnstate Hans JM Smit, MD. PhD 0031880058888 [email protected]
Location Countries

Netherlands

Verification Date

2016-10-01

Responsible Party

Type: Sponsor-Investigator

Investigator Affiliation: Free University Medical Center

Investigator Full Name: Hans Smit

Investigator Title: MD, PhD

Keywords
Has Expanded Access No
Condition Browse
Number Of Arms 2
Arm Group

Label: Spontaneous pneumothorax patients 1

Type: Active Comparator

Description: Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": visit to out-patient clinic,CT scan of pulmones.

Label: Spontaneous pneumothorax patients 2

Type: Active Comparator

Description: Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": withdrawal of blood sample for DNA analyses,

Patient Data No
Study Design Info

Allocation: Non-Randomized

Intervention Model: Parallel Assignment

Primary Purpose: Screening

Masking: None (Open Label)

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