ECFS Diagnostics Network Working Group | ECFS Exercise Working Group | ECFS Gene Modifier Working Group | ECFS Lung Microbiome Working Group | ECFS Neonatal Screening Working Group | ECFS Non Tuberculosis Mycobacteria Working Group

ECFS Diagnostics Network Working Group (DNWG)


1. Business meeting of the Diagnostic network
Anaheim at NACFC 2011
Planning yearly meeting;
Update on current projects.

2. The Annual meeting of the Diagnostic Network took place in Verona, Italy on February 10th and 11th 2012 hosted by Carlo Castellani attended by 45 participants.

The meeting began with an overview of our membership which is now 55 from 18 countries (100% ECFS members).
This year there was more competition between the abstracts of the different Young Investigators. The 4 Young Investigators that won the travel award are: Bente Aalbers  (Netherlands), Francois Vermeulen (Belgium), Aleksandra Norek (Poland) and Natalie Cirilli (Italy).They presented their research work on various aspects of diagnosis including genetics, electrophysiology, and screening.

Drucy Borowitz (USA) was our special guest and she spoke on the Metabolic Syndrome which provoked lengthy discussion.

Other lectures were given by Kevin Southern, Sarah Mayell, Inez Bronsveld, Hugo de Jonge, Paula Melotti, Carlo Castellani, Peter Middleton, Christina Bombieri, Nico Derichs, Isabelle Sermet and myself.

The DNWG has started working on its project as a Working Group of the ECFS

The title is:

To unambiguously define the population characteristics for inclusion and/or analysis  in  CF registries, especially when registry data are used for ‘benchmarking’ of centers or countries.

The DNWG has allocated several small groups to work on the different Workpackages.

Other actions

1. ECFS-DNWG website
Inez Bronsveld and Nico Derichs demonstrated the new facilities on the ECFS-DNWG website. The intention is to use this website as an aid for diagnostic cases and also for the discussion of difficult cases. Microsoft Office and LabChart files can be posted. In addition a forum can be used to discuss these cases.

2. Future planning:
a.   Meeting in Dublin on Friday June the 8th from 12:30 to 14:30 open to all participants at ECFS
Itinerary includes:
           Difficult Cases
           Update on Current Projects

b.   Update and planning meeting at NACFC in Orlando

c. The next ECFS-DNWG annual meeting will be held on February 7-9  2013 in Jerusalem (host  Michael Wilschanski).

Michael Wilschanski, Coordinator

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ECFS Exercise Working Group

Activities of the Exercise Working Group and achieved milestones 6/2011- 5/2012:

1) A page has been launched on the website of the ECFS (in the folder “ECFS working groups” introducing the background and the aims of the Exercise Working Group.

2) A 4-hour group meeting of the group took place at the 34th ECFS conference in Hamburg on June 8, 2011 with 18 attendees from Europe, Australasia und North America. During that meeting, the means of communication were established (e.g., regular emails, dropbox folder with literature and the documents to work on), the time plan for the 3-year period was agreed on, coordinators for the three planned consensus documents were nominated (exercise testing: Helge Hebestreit, Würzburg/Germany; physical activity assessment: Judy Bradley, Belfast/Ireland and Erik Hulzebos, Utrecht/Netherland; exercise counselling and conditioning: Anne Swisher, Morgantown/WV/USA and Wolfgang Gruber, Potsdam/Germany). Furthermore, many aspects of exercise testing in CF were discussed in detail to know and understand different points of view.

3) A first Delphi questionnaire asking anonymously for opinions regarding exercise testing procedures was completed by 42 participants from different disciplines (physicians, physiotherapists, nutritionists, exercise physiologists) and different areas of the world in June 2011.

4) A second Delphi questionnaire asking for opinions with respect to specific protocols and data reporting/interpretation was completed by 23 participants in October 2011.

5) A full-day meeting of the group took place in Irvine/CA/USA with 10 participants to work on the exercise testing document. The group decided to transform the document into a clinical practice guideline which shall offer advice also to care team members, who are not familiar with exercise testing. 

6) During 2011 and 2012, the document on exercise testing was drafted and revised repeatedly based on two Delphi questionnaires (June 2011 and October 2011), the face to face discussions in the group meetings, and lively email conversation. A complete document is now available for discussion at the Working Group Meeting in Dublin on June 6, 2012.

7) Contact to the American Thoracic Society and the European Respiratory Society was made with respect to the exercise testing document. The European Respiratory Society appointed Anders Lindblad (who is part of the Exercise Working Group  anyway) and Paul Aurora to participate in the development of the document and represent the ERS in the process.

8) To prepare the document on physical activity assessment, Judy Bradley has conducted a first web-based Delphi process and Erik Hulzebos has coordinated a literature review.
9) Anne Swisher and Wolfgang Gruber have drafted an outline of the guideline on exercise counselling and conditioning.

10) A 5-hour meeting of the ECFS Working Group will take place in conjunction with the ECFS annual meeting in Dublin on June 6, 2012.

Helge Hebestreit, Coordinator

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ECFS Gene Modifier Working Group

Major aim of the working group: To amalgamate EU-wide clinical and DNA data to identify genetic variants involved in CF disease severity.

The ECFS working group supports the emerging European Consortium to meet and to gather preliminary data for applying for a substantial European research grant.

Results obtained in 2011/2012
- France: the French project has been underway since 2007 with almost 3,800 French CF patients recruited (clinical data and DNA collected). French grants from the Agence Nationale de la Recherche (ANR), and the French CF Foundation "Vaincre la Mucoviscidose".
- Italy: in 2011, the Italians obtained a grant from the Italian CF Foundation "Fondazione per la Ricerca sulla Fibrosi Cistica". The inputs should start during the last trimester of 2012.
- UK: at the end of 2011, the British applied for a grant from the British “CF Trust” (results expected in June 2012)
- Ireland: In 2011-12, the Irish have included ~150 CF patients (clinical data and DNA collected). Irish local grants.

- In December 2010: first meeting in Paris
- In 2011: meetings during the ECFS Basic Science Conference, the ECFS Conference Hamburg, and the NACFC.
- In 2012: meetings during the ECFS Basic Science Conference, the ECFS Conference Dublin. In April 2012, 2 days face to face meeting in Paris with the North-American consortium.

Next expected action of the working group: applying for a European research grant (FP7) to support the scientific project.

Harriet Corvol, Coordinator

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ECFS Lung Microbiome Working Group

The Lung Microbiome Working Group was established to facilitate a better understanding of lung health, to identify factors that impact on lung function, and to aid improvements in CF patient well being and life span. Since the working group was established, group members have met twice; in Hamburg and Anaheim, and have focused on addressing the key initial aims of the group. Specifically, these aims were;
1. to provide a forum for discussion of the lung microbiome.

2. to serve as a platform by which funding will be secured at European and wider levels for large-scale, multi-centre, collaborative studies.

3. to disseminate understanding and analytical best practice through high impact publications regarding the CF microbiome and related topics.

The advances made on each of these aims are reported here.
1. Providing a forum for discussion
Through the formation of the working group, a collaborative framework for research on this topic has now been established. This has proved invaluable in bringing together experts within the field to exchange ideas on the CF lung microbiome. As an important initial step, the working group has drawn on the collective expertise of its membership to review current understanding of the field. This process has in turn led to the drafting of a state-of-the-art assessment of current knowledge led by Drs. Hoffman and Bruce. This document provides an essential waypoint for CF lung microbiome studies, and highlights key areas for future investigation. This document is now in preparation for publication.
Further, the working group is using the collaborative framework to agree best practice with regards to technical consensus on sample collection, handling and analysis and to establish a set of standard operating procedures. This is being led by Dr. Rogers and will be presented to the group at the Dublin meeting.
An audit of member groups’ archived sample collections will also allow the establishment of an online repository for sample information that will facilitate multi-centre, collaborative, investigations.
The working group aims to extend discussion of these lung microbiome topics beyond its membership, and engage the wider CF community. To aid this, the working group has produced an open letter to set out its key aims and objectives and to invite wider participation led by Dr. Bruce. It is anticipated that this process will lead to a better understanding of the potential of lung microbiome studies both within CF microbiology community and amongst wider stake holders, such as patients representatives and health professionals. Again, this document is in preparation currently for publication. Professor Elborn has been asked to coordinate publication.

2. Acquisition of funding across a range of scales
The working group has identified a number of funding bodies in Hamburg and Anaheim that could potentially provide support for the large-scale, observational investigations that we feel are a necessary initial step on the way to interventional studies and therapeutic assessments. Dr. Bruce led discussions with CF charities at a national scale. These will be reported in Dublin. Professor LiPuma has been asked to coordinate wider discussion on this. This will also inform the process of writing proposals for submission to these bodies.

3. Dissemination of knowledge
The first steps in this process are underway and we are moving forward with the submission of the manuscripts identified above. In addition to these positioning documents, it is anticipated that the multi-centre collaborative studies that are now being established within the working group network will result in a number of high impact peer-reviewed publications in the longer term.

Ken Bruce, Coordinator

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ECFS Neonatal Screening Working Group

Aims of the group (2011)

1. To support the implementation of NBS for CF across Europe
Meeting in Hamburg “Overcoming barriers to newborn screening in Europe”.  This meeting was well attended and has been reported as a catalyst to efforts in Germany and Scandinavia.  A national programme has been established in Denmark and the WG contributed by providing support to the main implementation committee, headed by Bent Norgaard-Pedersen.  Other countries working towards implementation include Sweden, Norway, Belgium and Greece. 

2. To monitor performance and compare protocols.
A major component of the Hamburg meeting was the assessment of protocols that have incorporated the measurement of Pancreatitis Associated Protein (PAP) as an alternative NBS test.  Useful comparisons were made between programmes in France, Germany and the Netherlands.  From this presentation, the French are now considering including PAP analysis in the national programme.  In Dublin, Jeanette Dankert-Roelse will describe how their research has been translated into practice.  Also in Dublin, Marci Sontag will compare the various strategies that have been implemented in the US. 

3. To encourage enrolment of all infants identified in clinical trials
There has been no active work on this aim.
At the recent Diagnostic Network meeting in Verona, the Neonatal Screening Working Group contributed to a morning session.  It was clear from this meeting that more work is needed in the area of recognition of infants with an equivocal diagnosis following NBS.  There is considerable international variation in the processing of infants in this situation and this was highlighted through a presentation by Drucy Borowitz.
The WG concluded that there is a need to revisit the European consensus statements published in 2009.  Dr Mayell will present at the Dublin workshop “Working towards an international consensus on the management of infants with an equivocal diagnosis” and Dr Munck will discuss progress in France in this area.  From this meeting a committee will be established to define a method to undertake this exercise.  This is a major problem and it is important that there are clear international guidelines.
Although some felt we could incorporate this work into aim 2, the majority feel that a separate aim is appropriate.

4. To determine the optimal management of infants with an equivocal diagnosis following newborn screening
The WG meeting in Dublin will decide a strategy to take this forward following the presentations of Drs Mayell and Munck.  The other aims will be reviewed at the meeting.

Kevin Southern, Coordinator

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ECFS Non Tuberculosis Mycobacteria Working Group Report May 2012

The working party has three main aims:

a. Develop NTM management guidelines.

b. Develop NTM-specific fields for the ECFS patient registry.

c. Facilitate in the development of a greater evidence base for the management of NTM infection in CF.

a) Development of Management Guidelines
Following discussions between Stuart Elborn and Bruce Marshall, it was agreed to develop joint ECFS / NACFF Management Guidelines.  The guidelines committee is co-chaired by Charles Haworth (Papworth Hospital, Cambridge, UK) and Andres Floto (Cambridge University, Cambridge, UK).  The working party is split into five sub groups which are outlined below:

Epidemiology and Risk Factors

Experts from Europe and North America (Ken Olivier, Kevin Winthrop, Isabelle Sermet, Jerry Nick, Ron Gibson, Karsten Kotz, Jean-Louis Herrmann, Richard Wallace, Jakko Van Ingen, Andres Floto, Charles Daly, Lisa Saiman, Alan Smyth, Charles Haworth, Diana Bilton, Peadar Noone and Paul Corris) are collaborating on the project. 

Thus far, we have participated in a series of telephone conferences to establish methodology and agree specific questions to be addressed in the guidelines and are due to have our first face to face guidelines meeting on 18 May 2012 in San Francisco (immediately prior to the ATS). 
b) NTM Specific Registry Fields for the ECFS database
We have developed NTM specific registry fields in collaboration with Hanne Olesen.  Through incorporating these fields into the ECFS Registry (and possibly some national registries), we will:
a) Gain important novel information about the epidemiology of NTM infection in CF
b) Evaluate clinical outcomes of new clinical management guidelines and compare them to historical best practice.
c) Establish a database of NTM-infected patients that may be willing to be enrolled in pan-European clinical trials of novel therapeutic agents

We are also collaborating with Laura Viviani to interrogate the current ECFS registry data set on NTM and we hope to get the initial analysis later this year.

c) Clinical Trials
We anticipate that the systematic search performed as part of the clinical management guideline development process will highlight the paucity of trial data to direct management of CF patients with new / chronic NTM infection.

The development of the ECFS NTM interest group and NTM registry fields will facilitate the initiation of clinical trials across CF centres in Europe.

Charles Haworth| Andres Floto, Coordinators

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