FEDERG  renewed its visions and plans for the next years. 15 different patient groups being part of the members‘ assembly that took place in Amsterdam on 3rd of March 2017 defined gols and developped strategies to expand to less represented countries. Patient representatives from Rumania, Poland and Slovakia being ready to become new members of the network. New important topics will be: connecting patients with rare or genetic renal diseases even if they don’t have a support group in their country access to medication for patients in all European countries,
support efforts to connect national patient groups to European networks in FEDERG.


EPag ERKNet has been launched
In a meeting organised by FEDERG on 4th of March 2017 all workgroups of the European Patient Advocacy Group in the newly established European Reference Network for Rare Renal diseases (ERKnet) could be started. Representatives of 25 different European patient groups set up their suggestions, plans and goals for their participation in the network. Healthcare pathways were prepared and discussed and topics fort he next meetings set. The official start of all ERNs will be on 9th of March in Vilnius / Litauen.



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Shouting Loud

Global Voice for aHUS Shouting Loud

In the second survey of aHUS patients around the world, the first was in 2014, international aHUS patient organisations ,including most from Europe , are encouraging aHUS patients and /or their carers to give their views about several rare disease aspects of their disease e.g. problems with diagnosis , access to treatment , ,research and registries and expert advice.

Already more responses from more countries have been received than in 2014 and many more can be expected before it closes on 15 April 2016.

The survey can be accessed via http://www.ahusallianceaction.org/survey/

When the results are compiled a global webinar will follow to allow patients and families to talk about them.

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The ERA-EDTA WGIKD (Working Group on Inherited Kidney Disorders) has just published recommendations for the use of Tolvaptan in ADPKD.

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice


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European Journal of Human Genetics

The article is signed by RD Connect researchers on the basis of the work done so far by various committees where FEDERG is active. The RD Connect paper on informed consent, which FEDERG contributed to via the Rome workshop and paper drafts has now been published. It’s open access and so available for all to read:

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.’ is now published online in EJHG http://www.nature.com/doifinder/10.1038/ejhg.2016.2 in our Advance Online Publication (AOP) service.

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HEIDELBERG 12th January 2016 – First Meeting of the European Reference Network for Rare Renal Disease (EuRenNet)
Twenty participants in this first informal meeting of members of the future European reference network for rare kidney disease, from nine countries. The meeting was chaired by Pr. Franz Schaeffer Heidelberg, and was sponsored by the Working Group on Inherited Kidney Diseases of the ERA-EDTA, coordinated by Pr. Olivier Devuyst, Chairman of the FEDERG Scientific Council.

Patients are heavily involved in the preparatory work for future network. FEDERG and three representatives of national associations, federation members, were present at the meeting.

The objective of this meeting was to take stock of the application process, according to the latest instructions issued from the Commission, in particular the “Toolbox” put online on 23rd December 2015.

The meeting has highlighted the challenges that the teams will face for the national accreditation of their reference centers. Much work will have to be done by each center candidate to provide documentation for obtaining highest score on the evaluation criteria of reference centers (Health care providers), which are severe according to the professionals.

The project is then a bet on the future, since there are no European funds to support the network at this stage of the process and because those who have already done a great job for organizing their national reference networks are solicited more, with benefits in other countries.

Although this noble task of solidarity is perceived by everyone as heavy, the participants have formally pronounced for rapid work to enable the network to be ready when the call will be launched in a few weeks.

FEDERG presented the patient organizations perspectives: patient’s organisations are stakeholders for the rare renal ERN, and motivated for its development. They see it as an opportunity to expand access to good health care to all patients in Europe. This is a strong solidarity objective. The principle is that the expertise goes as close to the patient no matter the level of organization of the country in which the patient lives. FEDERG also sees the ERN as a process that will enhance organization of patients across Europe, and yield to greater mobilization for registries and trials with more patients.

In summary: “Better care for all and then better research”

View of the Participants at the meeting

IMG_6206 (1)

FEDERG representatives, de gauche à droite : Daniel Renault (Chair), Claudia Sproedt (Vice-Chair),
Marjolein Storm (NVN), Marjolein Bos (Cystinosis Netherlands & NVN).

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A call for research project on Alport syndrome: The call is financed by a group of European associations for Information and Research on Kidney Disease Genetic (AIRG). This group includes AIRG-France, AIRG-Spain and AIRG-Belgium. This tender, 2016, has a budget of 150.000 € (Hundred and fifty thousands) over two years to finance in 2016 and 2017, one or more innovative and targeted projects in this disease (Ref. 2016 ALPORT AIRG-FEB).

This is a full-fledged international call without geographical restriction.

For more information on the call, visit the web sites:

or contact:


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At the onset of 2016 a good news for Genetic diseases: CRISPR/Cas9 is opening new avenues: The positive results of the first animal tests of the new promising technique of modifying the ADN using with CRISPR/Cas9 to treat Duchenne Muscular Distrophy (CRISPR/Cas9 is a sort of cut/copy/paste/insert tool as we know on text software, that works for ADN).

The way ahead is still long to become a human cure for some genetic diseases but somehow the direction is set, and no doubt the technique will be massively investigated by research teams the world over.


Hiroshi Nishimasu, F. Ann Ran, Patrick D. Hsu, Silvana Konermann, Soraya I. Shehata, Naoshi Dohmae, Ryuichiro Ishitani, Feng Zhang, and Osamu Nureki – Crystal Structure of Cas9 in Complex with Guide RNA and Target DNA http://dx.doi.org/10.1016/j.cell.2014.02.001
the crystal structure of Streptococcus pyogenes Cas9 in complex with sgRNA and its target DNA at 2.5 A ˚ resolution.
Licence: CC BY-SA 3.0
Source: Wikipedia
Image: Nielsrca – based on: System Bio and Origene
graphical overview of CRISPR Cas9 plasmid construction
Licence: CC-BY-SA 4.0
Source: Wikipedia


Here below the links to the abstracts of the 3 publications published on the last day of 2015.

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KDIGO Controversies Conference on Complement-Mediated Kidney Diseases
Barcelona, November 19-21, 2015

KDIGO guides are the best known among professionals (doctors and researchers) worldwide. The
organization KDIGO born in USA, invites doctors and researchers, and the most prestigious experts in
each renal disease.

At this conference, we ASHUA have been fortunate to participate with 2 people, and representing
FEDERG and all of European aHUS patients. Due our agenda, Mireya (Secretary of ASHUA) was all
time participating all time on the Treatment Strategies Group, while I was on the second day.

For two full days, doctors and researchers, discussed the questions, detailed below, made by the
other professionals involved in KDIGO worldwide. The findings of the whole debate, we shall know
once drafted the new guidelines for the management of aHUS.

As an organization and representatives of aHUS patients, we have known as health professionals,
their interest in improving the lives of patients, their dedication … but above all, their willingness to
work with us the patients.

We were able to chat and exchange points of views with many Doctors, worldwide, although in the
case of aHUS, perhaps research and good management of aHUS, are concentrated in Europe and

We highlight several conversations … with Dr. Goodship, which have made possible apart from our
attendance at this Conference, he paid much attention to our comments and concerns,
encouraging us to continue to participate in future KDIGO conferences, representing all kidney
diseases, but also sharing all KDIGO jobs with all patients, in all countries.

Due to technical and medical concepts spoken, I do not feel appropriate to summarize here two full
days of debate among professionals, we shall have it soon, when editing the new guide. Although
all comments between doctors and researchers may I highlight the following:

  • Dr. Ardisino (Italy). A case of cold in a patient with Eculizumab, DO NOT stop the medicine,
    perhaps even increase the dosage.
  • Dr. Ruggenenti (Italy). When a liver transplant is performed at an aHUS patient, Eculizumab is
    strongly recommended during and after transplant until the new liver produces all new
    proteins (especially factor H) in sufficient quantity to avoid new onset aHUS in the following
    days transplantation.
  • Dr. Loirat (France), Dr. Ariceta (Spain) and Dr. Appel (USA). When a debut of aHUS,
    immediately suspected it is aHUS, administer Eculizumab, not loose time, especially in
  • Dr. Noris (Italy). Genetic analyses help to understand the origin of the aHUS. May it is time to
    start to customized treatments depending of each aHUS patient, but due we don’t know
    much about that, we should take care and learn step by step. We must be careful with the
  • Dr. Blasco (Spain). Patients … associations are the key to request and pressure administrations
    to create reference hospitals and further enhance the investigation, which should be
    centralized and organized.
  • Dr. Van de Kar (Netherlands). She presented the new video made between aHUS patients
    and doctors (coordinated by the association NVN), to raise awareness throughout the
    population, but also to the administration and doctors. We have shown our Personal ASHUA
    bracelet, and she liked a lot and paid special interest in it as she sees many advantages for
    all patients.
  • Dr. Fadi Fakhouri (France). Eculizumab discontinue??? There are cases is completely
    discouraged as the factor H, but for other cases is highly recommended to continue
    treatment for at least one year, and from there continued again between 6 or 12 months
    once the renal function has stabilized. Once discontinued, the patient should be monitored
    very strictly.
  • Dr. Carla Nester (USA). PNH patients take many more years with Eculizumab, so in some cases,
    data can be compared with aHUS cases and learn.
  • Dr. Véronique Frémeaux-Bacchi (France). The visibility of patients is essential, she liked very
    much our ASHUA red bracelet and the campaign we are doing with celebrities.


Group 5. Treatment Strategies, breakout group questions.

  1. What is the optimal duration for eculizumab treatment in aHUS patients? What is the evidence
    that justifies life-long therapy especially in adults?
  2. What is the evidence for optimal dose and dose interval for eculizumab and are there
  3. What is the optimal treatment for patients with aHUS due to anti-FH antibodies?
  4. How do we stratify C3G patients for novel agents and clinical trials?
  5. What should the current approach to treatment of C3G be?
  6. Kidney transplantation in aHUS and C3G
    • What is the best time frame for kidney transplantation after the onset of end-stage
      renal disease (ESRD) in aHUS or C3G patients treated with anti- cellular therapy and/or
    • What is the risk of recurrence?
    • What is the best strategy in order to prevent aHUS (C3G) recurrence after kidney
      transplantation: preventive vs. pre-emptive strategies?
    • Should living kidney donors be used (preferentially?); living related?
  7. How should eculizumab treatment be monitored: CH50, AP50, free eculizumab or total
    eculizumab, in vitro EC tests?
  8. What is the optimal treatment for rapidly progressive or bad prognosis histology C3G?
  9. What is the role for immunosuppression in the treatment of C3G
  10. What is the role of eculizumab in the treatment of C3G? a. In what subgroups might it be


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WELCOME to NephcEurope !

FEDERG is pleased to welcome NephcEurope as new member of our federation. Having NephcEurope with us is a great help in particular for representing the patients in the coming elaboration of the European Reference Network on Rare Renal Diseases. This adds the Nephrotic Syndrome, the most frequent rare renal disease, into the overall coverage of pathologies of FEDERG.

FEDERG and NephcEurope know each other for quite a while. Together we are the voices of the patients in various committees within EURenOmics and RD-Connect projects. Our joint expertise and efforts have contributed into depth to new developments in these projects.

NephcEurope is an umbrella organization dedicated to all aspects of care and cure for all forms of primary Nephrotic Syndrome (both genetic and also non-genetic) covering MCNS, FSGS, MPGN, membranous nephropathy and IGA Nephropathy. The organization is the international liaison between European national organizations.

NephcEurope has special attention to representation specifically in the European field on the higher EU level whereas the national patient organizations are covering national entities. We are well represented in all large kidney projects as EurenOmics (SAB and PAC), RD Connect (PEC), EurostAM a science project of Eurotransplant and Safepedrug on the development of pediatric medication. For more information see the website: www.nephceurope.eu


photo: Marieke van Meel, Chair of NephcEurope, (on the left) taken at the EurenOmics
launching meeting in 2012 Sitges, together with Pr. Loirat both members of the ethical committee. 

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ERN, the move is starting!

The European Reference Networks, ERN, the move is starting!

“ERN” an acronym you need to get familiar with!

EURORDIS organized in Paris on the 27-29th October, the annual meeting of the Council of European Federations (CEF), the meeting was very well attended this year because of the focus on the establishment of the European Reference Network for Rare diseases. Daniel Renault Chair of FEDERG participated to the meeting.

Recall that Eurordis has played a key role in the EUCERD committee, (the European Committee of Rare Diseases) that have paved the way to ERN.

The situations for the ERN pre-set themes are much diverse. There are thematic for which the patients organizations are scattered (for 10 themes of ERN there is, for each theme, between 20 and 100 associations members of EURORDIS) with a similar divided situation for the clinicians.

Fortunately the theme for which we are concerned “rare renal diseases” (RRD) is in a better situation on both sides. Only 10 renal associations in EURORDIS (out of 610), half of them are already member of FEDERG. Thus FEDERG is somehow legitimate to represent the patients in the ERN project on RRD.

EURORDIS will make efforts in the coming weeks to get all the groups organized into Patient Advocacy Group, that will be done for ERN but also looking beyond. Again Rare Renal is already almost done.
Officially the fist call is to be launched before March ends with 3 months for making the proposal. EURORDIS urges us to speed up the preparation steps.

For Rare Renal, a core team of nephrologists and geneticians together with FEDERG will start the preparatory works mid November. A partner meeting is to be held 12th January 2016 in Heidelberg at the invitation of Franz Schaeffer.

Photo 1 Yann Le Cam Director of EURORDIS presenting the ERN process and how patients should be organised.

Photo 2 The CEF audiences with Matt Johnson, Scientific Director of EURORDIS, presenting the process of submission and validation of the ERN projects.

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