Prevalence of Spontaneous Pneumothorax in BHD
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ClinicalTrials.gov Identifier: NCT02916992 |
Recruitment Status : Unknown
Verified October 2016 by Hans Smit, Free University Medical Center.
Recruitment status was: Recruiting
First Posted : September 28, 2016
Last Update Posted : October 26, 2016
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Condition or disease | Intervention/treatment | Phase |
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Spontaneous Pneumothorax | Radiation: CT scan of the thorax Genetic: blood sample for FLCN mutation analyses | Phase 1 |
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).
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 200 participants |
Allocation: | Non-Randomized |
Intervention Model: | Parallel Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Screening |
Official Title: | Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax |
Study Start Date : | September 2016 |
Estimated Primary Completion Date : | June 2017 |
Estimated Study Completion Date : | July 2017 |

Arm | Intervention/treatment |
---|---|
Active Comparator: Spontaneous pneumothorax patients 1
Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": visit to out-patient clinic,CT scan of pulmones.
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Radiation: CT scan of the thorax
A low dose CT scan of the thorax (2mSv) wil be performed once. Genetic: blood sample for FLCN mutation analyses A venous punction in order to withdraw 16ml blood is undertaken once. |
Active Comparator: Spontaneous pneumothorax patients 2
Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": withdrawal of blood sample for DNA analyses,
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Radiation: CT scan of the thorax
A low dose CT scan of the thorax (2mSv) wil be performed once. Genetic: blood sample for FLCN mutation analyses A venous punction in order to withdraw 16ml blood is undertaken once. |
- presence of pathogenic FLCN mutations [ Time Frame: 6 months ]by assessing blood samples
- presence of lung cysts [ Time Frame: 6 months ]visible on pulmonary low dose CT

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- treated in Rijnstate hospital for primary spontaneous pneumothorax
- informed consent
Exclusion Criteria:
- secondary or iatrogenic pneumothorax

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02916992
Contact: Jincey D. Sriram, MD, MSc | 0880058888 ext 3443 | JSriram@Rijnstate.nl | |
Contact: Hans JM Smit, MD,PhD | 0880058888 ext 3030 | HSmit@Rijnstate.nl |
Netherlands | |
Rijnstate | Recruiting |
Arnhem, Gelderland, Netherlands, 68015AD | |
Contact: Hans JM Smit, MD. PhD 0031880058888 hsmit@rijnstate.nl | |
Contact: Jincey Sriram, MD 0031880058888 JSriram@rijnstate.nl |
Study Chair: | Pieter E. Postmus, MD, PhD | The Clatterbridge Cancer Centre | |
Principal Investigator: | Hans JM Smit, MD, PhD | Rijnstate Hospital |

ABR form (Algemeen Beoordelings en Registratie formulier; document of dutch board of human research (Centrale Commissie Mensgebonden Onderzoek)
Publications:
Responsible Party: | Hans Smit, MD, PhD, Free University Medical Center |
ClinicalTrials.gov Identifier: | NCT02916992 |
Other Study ID Numbers: |
2014-0525 50605 ( Registry Identifier: ABR number ) 2014-1386 ( Registry Identifier: METc ) NL50605.091.14 ( Registry Identifier: NL nummer ) |
First Posted: | September 28, 2016 Key Record Dates |
Last Update Posted: | October 26, 2016 |
Last Verified: | October 2016 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
spontaneous pneumothorax familial pneumothorax Birt-Hogg-Dube syndrome prevalence FLCN mutation Lung cysts |
BHD inherited disease genetic disease primary pneumothorax CAT scan CT scan |
Birt-Hogg-Dube Syndrome Pneumothorax Pleural Diseases Respiratory Tract Diseases |
Neoplastic Syndromes, Hereditary Neoplasms Genetic Diseases, Inborn |