NCT02916992

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
200

participants targeted

Target at P75+ for phase_1

Timeline
Completed

Started Sep 2016

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 23, 2016

Completed
7 months until next milestone

Study Start

First participant enrolled

September 1, 2016

Completed
27 days until next milestone

First Posted

Study publicly available on registry

September 28, 2016

Completed
8 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2017

Completed
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2017

Completed
Last Updated

October 26, 2016

Status Verified

October 1, 2016

Enrollment Period

9 months

First QC Date

January 23, 2016

Last Update Submit

October 24, 2016

Conditions

Spontaneous Pneumothorax

Keywords

spontaneous pneumothoraxfamilial pneumothoraxBirt-Hogg-Dube syndromeprevalenceFLCN mutationLung cystsBHDinherited diseasegenetic diseaseprimary pneumothoraxCAT scanCT scan

Outcome Measures

Primary Outcomes (1)

  • presence of pathogenic FLCN mutations

    by assessing blood samples

    6 months

Secondary Outcomes (1)

  • presence of lung cysts

    6 months

Study Arms (2)

Spontaneous pneumothorax patients 1

ACTIVE COMPARATOR

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 thoraxGenetic: blood sample for FLCN mutation analyses

Spontaneous pneumothorax patients 2

ACTIVE COMPARATOR

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

Radiation: CT scan of the thoraxGenetic: blood sample for FLCN mutation analyses

Interventions

CT scan of the thoraxRADIATION

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

Spontaneous pneumothorax patients 1Spontaneous pneumothorax patients 2
blood sample for FLCN mutation analysesGENETIC

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

Spontaneous pneumothorax patients 1Spontaneous pneumothorax patients 2

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

  • secondary or iatrogenic pneumothorax

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Rijnstate

Arnhem, Gelderland, 68015AD, Netherlands

RECRUITING

Related Publications (13)

  • Johannesma PC, Thunnissen E, Postmus PE. Lung cysts as indicator for Birt-Hogg-Dube syndrome. Lung. 2014 Feb;192(1):215-6. doi: 10.1007/s00408-013-9522-0. Epub 2013 Oct 22.

    PMID: 24146214BACKGROUND

  • Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008 Jun;45(6):321-31. doi: 10.1136/jmg.2007.054304. Epub 2008 Jan 30.

    PMID: 18234728BACKGROUND

  • Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH. Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer. 2011 Dec 6;105(12):1912-9. doi: 10.1038/bjc.2011.463.

    PMID: 22146830BACKGROUND

  • Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. Am J Respir Crit Care Med. 2007 May 15;175(10):1044-53. doi: 10.1164/rccm.200610-1483OC. Epub 2007 Feb 22.

    PMID: 17322109BACKGROUND

  • Johannesma PC, Reinhard R, Kon Y, Sriram JD, Smit HJ, van Moorselaar RJ, Menko FH, Postmus PE; Amsterdam BHD working group. Prevalence of Birt-Hogg-Dube syndrome in patients with apparently primary spontaneous pneumothorax. Eur Respir J. 2015 Apr;45(4):1191-4. doi: 10.1183/09031936.00196914. Epub 2014 Dec 23. No abstract available.

    PMID: 25537564BACKGROUND

  • Johannesma PC, Lammers JW, van Moorselaar RJ, Starink TM, Postmus PE, Menko FH. [Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk]. Ned Tijdschr Geneeskd. 2009;153:A581. Dutch.

    PMID: 19857281BACKGROUND

  • Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clin Genet. 2008 Aug;74(2):178-83. doi: 10.1111/j.1399-0004.2008.01030.x. Epub 2008 May 25.

    PMID: 18505456BACKGROUND

  • Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS. Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod Pathol. 2004 Aug;17(8):998-1011. doi: 10.1038/modpathol.3800152.

    PMID: 15143337BACKGROUND

  • Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6.

    PMID: 12204536BACKGROUND

  • Furuya M, Nakatani Y. Birt-Hogg-Dube syndrome: clinicopathological features of the lung. J Clin Pathol. 2013 Mar;66(3):178-86. doi: 10.1136/jclinpath-2012-201200. Epub 2012 Dec 8.

    PMID: 23223565BACKGROUND

  • Kilincer A, Ariyurek OM, Karabulut N. Cystic lung disease in birt-hogg-dube syndrome: a case series of three patients. Eurasian J Med. 2014 Jun;46(2):138-41. doi: 10.5152/eajm.2014.31.

    PMID: 25610314BACKGROUND

  • Auerbach A, Roberts DH, Gangadharan SP, Kent MS. Birt-Hogg-Dube syndrome in a patient presenting with familial spontaneous pneumothorax. Ann Thorac Surg. 2014 Jul;98(1):325-7. doi: 10.1016/j.athoracsur.2013.09.022.

    PMID: 24996715BACKGROUND

  • Sriram JD, van de Beek I, Johannesma PC, van Werkum MH, van der Wel TJWT, Wessels EM, Gille HJJP, Houweling AC, Postmus PE, Smit HJM. Birt-Hogg-Dube syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice. BMC Pulm Med. 2022 Aug 26;22(1):325. doi: 10.1186/s12890-022-02107-7.

    PMID: 36028846DERIVED

MeSH Terms

Conditions

PneumothoraxBirt-Hogg-Dube SyndromeCystic Disease Of LungGenetic Diseases, Inborn

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Pleural DiseasesRespiratory Tract DiseasesNeoplastic Syndromes, HereditaryNeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Pieter E. Postmus, MD, PhD

    The Clatterbridge Cancer Centre

    STUDY CHAIR

  • Hans JM Smit, MD, PhD

    Rijnstate Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Jincey D. Sriram, MD, MSc

CONTACT

0880058888JSriram@Rijnstate.nl

Hans JM Smit, MD,PhD

CONTACT

0880058888HSmit@Rijnstate.nl

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
SCREENING
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
MD, PhD

Study Record Dates

First Submitted

January 23, 2016

First Posted

September 28, 2016

Study Start

September 1, 2016

Primary Completion

June 1, 2017

Study Completion

July 1, 2017

Last Updated

October 26, 2016

Record last verified: 2016-10

Data Sharing

IPD Sharing
Will not share

Available IPD Datasets

Study Protocol (NL50605.091.14)Access

Locations

NL(1)