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Trial record 5 of 5 for:    "Birt-Hogg-Dube syndrome"

Prevalence of Spontaneous Pneumothorax in BHD

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ClinicalTrials.gov Identifier: NCT02916992
Recruitment Status : Recruiting
First Posted : September 28, 2016
Last Update Posted : October 26, 2016
Sponsor:
Collaborators:
Prof. Dr. Jaap Swieringa stichting
Mr. Willem Bakhuys Roozeboomstichting
Rijnstate Hospital
Information provided by (Responsible Party):
Hans Smit, 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.

Condition or disease Intervention/treatment Phase
Spontaneous Pneumothorax Radiation: CT scan of the thorax Genetic: blood sample for FLCN mutation analyses Phase 1

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).


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.
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,
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.




Primary Outcome Measures :
  1. presence of pathogenic FLCN mutations [ Time Frame: 6 months ]
    by assessing blood samples


Secondary Outcome Measures :
  1. 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
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • secondary or iatrogenic pneumothorax

Information from the National Library of Medicine

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


Contacts
Contact: Jincey D. Sriram, MD, MSc 0880058888 ext 3443 JSriram@Rijnstate.nl
Contact: Hans JM Smit, MD,PhD 0880058888 ext 3030 HSmit@Rijnstate.nl

Locations
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   
Sponsors and Collaborators
Hans Smit
Prof. Dr. Jaap Swieringa stichting
Mr. Willem Bakhuys Roozeboomstichting
Rijnstate Hospital
Investigators
Study Chair: Pieter E. Postmus, MD, PhD The Clatterbridge Cancer Centre
Principal Investigator: Hans JM Smit, MD, PhD Rijnstate Hospital

Additional Information:
Study Data/Documents: Study Protocol  This link exits the ClinicalTrials.gov site
Identifier: NL50605.091.14
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     History of Changes
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

Keywords provided by Hans Smit, Free University Medical Center:
Birt-Hogg-Dube syndrome
spontaneous pneumothorax
familial pneumothorax
prevalence
FLCN mutation
Lung cysts
BHD
inherited disease
genetic disease
primary pneumothorax
CAT scan
CT scan

Additional relevant MeSH terms:
Pneumothorax
Birt-Hogg-Dube Syndrome
Pleural Diseases
Respiratory Tract Diseases
Neoplastic Syndromes, Hereditary
Neoplasms
Genetic Diseases, Inborn