Dear ERKNet members, patients and friends,

we would like to take this opportunity to thank you for a great and successful year 2022. This year has been very busy, but also exciting. We received our second ERKNet grant, which opens up new opportunities for us to actively advance projects and financially support the efforts of the network overall. In addition, we were finally able to welcome our new ERKNet member centers, who are already involved in many working groups, the educational program, guideline initiatives, and the registry.

In addition to the successful Annual Meeting, we were also able to invite many members to an ERKNet/ESPN Symposium on Innovative Therapies in November in Heidelberg.

The upcoming 5-year evaluation will be a great effort for all of us, but we are convinced that with gathered strength we will manage this task and improve the network even further.

We wish you a happy holiday season and look forward to an inspiring 2023,

Your ERKNet team

09 - 11 May 2023 in Heidelberg

Our main meeting will take place in Heidelberg on May 10 and 11, 2023. We will organize it in a hybrid way and will send you more information and registration details as soon as available.

On May 09, we will have the opportunity to organize several small f2f sessions. Please submit proposals to the central office if you would like to organize a guideline, task force or working group meeting on this occasion.

When ERNs were established, it was agreed that an evaluation would be conducted every five years after the initial approval (or final evaluation) to determine the value or significance of the work and actions developed by ERNs. 

Currently, ERKNet and our HCP members from the first call are undergoing a formal performance evaluation.

For the first phase, all stakeholders have already been informed of the self-evaluation and timeline by an Independent Evaluation Board (IEB). The self-evaluation was intended to reflect on the activities carried out during these five years to verify the extent to which they have developed their mission and achieved the proposed objectives. The deadline for submitting the self-assessment via an online tool has been extended to Feb. 19.

As a second step, the IEB will conduct technical reviews of the submitted reports and conduct on-site audits. Audits will take place from 09 March to 18 May, all randomly selected HCPs will be notified of a possible on-site audit by 13 January.

Helpful materials for the assessment, e.g. webinar, manual and toolbox, can be found on our website.

GENERAL EPAG UPDATE

We are glad to announce that the ePAG community is still growing. We welcomed in 2022 the following new ePAGs:

• David van Bennekom from Holland representing DENT disease
• Christian Scheidler from ADTKD
• Tina Verschure from Belgium representing Lowe Syndrome
• Renée de Wild took over for Evy van Kempen from NVN.
• Mireya Carratalá replaces her husband Francisco Monfort from Shua Spain, represents aHUS.

The ePAGs met almost every second month in January, March, May, Oktober and November. Right now they are starting to prepare the patient-related part of the 5-year ERN evaluation. Main topics are here the level of activity, involvement and objectives as well as the ePAG experience and impact at ERKNet as a meaningful contribution.

In 2022, the ePAGs joined actively all ongoing working groups and also initiated own surveys (as the mineral supplements or the long term dialysis question). Additionally, chair Susana de Carvajal Arjona, co-chair Uwe Korst and ePAG manager Vera Cornelius drove foreward the updated ePAG regulations and partner agreement templates with the great support of Rita Francisco and Matt Johnson of EURORDIS.

Home Hemodialysis patient film

In summer we produced our first ERKNet “patient film” for the patient website. As an initial theme home hemodialysis was choosen and the topic is presented throughout a lively and authentic interview between two young dialysis patients at Heidelberg university clinic. The teenager protagonists transport well all major questions, concerns and advantages. Dr. Claus Schmitt, WG lead of Pediatric Dialysis, gives a first introduction and in three additional film parts one can follow Niklas, the protagonist, to the station where he explains the machine but also get at home an insight of his daily live and the hemo dialysis experiences of his father.

POSTGRADUATE CURRICULUM IN RARE KIDNEY DISEASES

The second year of our ERKNet postgraduate curriculum is coming to a close, and we opened registration for the third cohort in October; so far, 63 new students have registered. The third cohort will officially begin on January 16, and all enrolled students will receive more information in early 2023. If you are interested in becoming a European Rare Kidney Disease Specialist, you can find more information here. Register today!

This year we offered 16 webinars, which were attended by more than 1600 participants worldwide, of which 20% were ERKNet students. For next year, we have already organized many exciting webinars with outstanding experts in their field. All upcoming webinars for 2023 can be found here.

In addition to our webinar programme we are currently working on more basic and advanced eLearning Cases for you. You can find our existing 25 eLearning Cases along with helpful reading material and more webinars on our moodle platform (for students only). 

Our 287 ERKNet postgraduate students will receive their personal first- or second-year record in the next few weeks and will be able to evaluate their progress. Please also find our third satisfaction survey here, and help us improve the curriculum and organization.

Hybrid ERKNet/ESPN Symposium

CLINICAL EXCHANGE PROGRAMME

ERKNet was able to organize 58 exchanges with a total of 81 person-weeks to share knowledge, receive and provide training and strengthen network activities. Overall, we made very active use of the EU-funded pilot program and took up more packages than ERKNet was originally allocated.

The program enabled 27 young clinicians-in-training to receive on-site training and attend educational sessions. In addition, 25 senior experts used this program to share their expertise and strengthen collaboration within the network or used the program to work efficiently on guidelines.

The map illustrates the exchanges and shows that 39 HCPs participated either as sending or hosting institutions in 17 countries.

The program unfortunately expires in January 2023, and the last exchanges have already been organized. So far there is no similar program planned for the near future. If there are fundings planned in the next grant we will inform you.

Thanks to all participant who were involved in this clinical exchange programme and made it successful. Find their experiences here.

EJP RD RESEARCH  EXCHANGE PROGRAMME

The last call of the ERN research mobility programme hit a record of 33 applications, of whom up to 30 will receive funding. We are proud and happy to announce that this will include 3 ERKNet fellows! We will ask the funded ERKNet fellows to present their research projects in a future newsletter.

• The European Registry for Rare Kidney Diseases has now more than 17,000 patients entered. We would like to thank all ERKReg contributors for their dedicated efforts!
• Three disease-specific sub-registries are active as a modular extension of the core Registry:
  • ERKNet/ESPN sub-registry for childhood-onset lupus nephritis patients (N=81)
  • ERKNet/ESPN sub-registry for distal renal tubular acidosis patients (N=233)
  • EUROCYS sub-registry for cystinuria patients (N=136)
• The sub-registry for Bartter syndrome patients is now finally programmed and can be used for all ERKReg members.
• All pediatric ERKReg centers will soon be invited to join the cohort study "esCapeKD" for children with chronic kidney disease.
• Further sub-registries and cohort studies are currently being planned 
  • MPGN/C3G w/ CompCure foundation
  • ANCA vasculitis
• ERKReg: Case-base compensation for ERKNet member centres 
  The EU continues to support our registry with case-based compensations. If your team is not yet receiving financial support for data entry efforts, please contact erkreg@erknet.com for more information.

Recently published:

• Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group. - Capone et al. Nat Rev Urol. 2022 May 19

  
  
• Definition, diagnosis, and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet working group on Kidney Malformations - Kohl et al., Nephrol Dial Transplant. 2022 Jun 30

• An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International - Müller et al., Nephrol Dial Transplant. 2022 Apr 25.

Recently accepted manuscripts:

• Hyperoxaluria (WG metabolic nephropathies w/Oxaleurope, lead: J. Groothoff)

Ongoing projects

• Monoclonal gammopathies of renal significance (WG immune glomerulopathies, lead: J. Wetzels, Nijmegen)

• Dent Disease (WG tubulopathies, lead: A. Bökenkamp, Amsterdam)

• Lipid Apheresis (WG Pediatric CKD/Dialysis, lead: C.P. Schmitt, Heidelberg)

• Methylmalonic acidemia (WG metabolic nephropathies, lead: A. Servais)

• Nephrogenic diabetes insipidus (WG tubulopathies, leads: N. Knoers, E. Levtchenko)

• Renal management of tuberous sclerosis complex (WG AD structural disorders, lead: D. Mekahli)

• w/ERN Eye: Bardet Biedl syndrome (members of the WG congenital malformations)

• Lowe syndrome (WG Metabolic NP, lead: F. Emma)

On the ERKNet website under “guidelines & pathways” you can find all guidance documents that were developed by our Network, as well as those developed by our partner medical societies and endorsed by the Network Board.

The ERKNet working groups regularly conduct online surveys to collect data on specific research questions concerning individual diseases. This instrument has proven highly successful with excellent response rates and insightful results that have led to important publications.

Recently published results:

• Pregnancy in cystinosis patients with chronic kidney disease: A European case series. - Servais et al., J Inherit Metab Dis. 2022;1–6.

• Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency. - Drovandi et al., Kidney International. 2022 May 25. 

• Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy. - Drovandi et al., Kidney International. 2022 Apr 26. 

• Clinical and genetic characteristics of Dent's Disease type 1 in Europe.  Burballa et al., Nephrol Dial Transplant. 2022 Nov 28:gfac310. doi

• Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review – Drovandi et al., J clin Med, 2022, July 29

• Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study. - Verploegen et al., Nephrol Dial Transplant. 2022 Nov 23

Horizon Europe Call: "Development of effective therapies for rare diseases with an unmet medical need"

We are pleased to report that the a project on renal ciliopathies (TheraCil) has been selected for funding, which involves several participants of ERKNet and our ERKReg registry. The project will be coordinated by Sophie Saunier from IMAGINE institute in Paris.

NATIONAL & LOCAL MEETING SUPPORT

Fortunately, our new ERKNet grant gives us the opportunity to financially support meetings and conferences focusing on rare kidney diseases organised by an ERKNet member, an Affiliated Partner or an ePAG. If you have a proposal, please contact us to get more information. The deadline for the second round of support for meetings in 2023 is 1st March 2023.

ERICA October Workshop:

This 2-day workshop that took place in Heidelberg during 17 and 18 of October brought together representatives from all ERICA stakeholder groups (patients, researchers, industry, and regulatory authorities). They were able to express their needs and expectations and ensure their consideration in the implementation of a coherent data management strategy by the ERNs. The elaboration of a white paper that reflects the conclusions and discussions from this workshop is currently underway.

EJPRD September Workshop and news:

During a 2-day workshop hosted in Heidelberg (01-02 September), technologies and connection levels to the EJP-RD Virtual Platform were discussed and defined. The Virtual Platform establishes a federated ecosystem with a focus on rare disease research, in which each participating resource can define its own data access conditions in order to guarantee patient privacy. Data does not leave the supervision of the original provider, but can be discovered, queried, and analysed by other resources in the ecosystem. Development of the EJP-RD Virtual Platform continues its progress and it has started linking the first group of resources, including ERKReg.

A major highlight was the following acknowledgement: Franz Schaefer has been honoured with the highly respected "Black Pearl Award" from EURORDIS in the category of science and research. The name of the award is symbolic of the rarity of the diseases that are the subject of this yearly award. In this way, the organization recognized his exceptional commitment to and in the research of childhood kidney diseases. It particularly highlighted also his role in establishing ERKNet.