The working groups regularly conduct online surveys to collect data on specific research questions concerning individual diseases. This instrument has proven highly successful as it allows to quickly obtain information from large numbers of patients with rare conditions. The surveys are set up and circulated by the ERKNet central office to the ERKNet member mailing list.
Open ERKNet Surveys
Dear ERKNet Members,
We are reaching out to invite your participation in a collaborative project focused on growth data in patients with nephrogenic diabetes insipidus (NDI). This initiative is being led by Giulio Rivetti, under the guidance of Francesco Trepiccione and Francesco Emma.
The aim of this project is to collect and analyze growth data for NDI patients to address a significant knowledge gap—the last major study on this topic was conducted over 20 years ago. Giulio has developed a simple and efficient data collection file to capture a limited amount of key information.
We kindly ask participating centers to fill out the provided spreadsheet and send a scanned, anonymized copy of the patient’s growth chart, labeled with a patient code. To ensure meaningful results, we are primarily looking for data from patients who have completed their growth, so we propose a minimum age limit of 10 years.
Your support and contributions will be invaluable to advancing our understanding of growth patterns in patients with NDI.
Thank you for considering this request, and we look forward to your participation.
Best regards,
Giulio and Francesco
Dear colleagues,
As you know, Pseudohypoaldosteronism type 1 (PHA1) is a rare disease that unfortunately can lead to premature death through mechanisms that are not fully understood. In this scenario, we believe that networking and gathering information is essential to improve the prognosis of these patients.
Therefore, we would like to invite you to participate in a survey on PHA1. We are conducting this survey on behalf of ERKNet and ESPN.
To participate in the survey, please reply to m.g.giaccari@amsterdamumc.nl and we will send you the form.
You are welcome to distribute the survey to colleagues who treat patients with PHA1.
Kind regards,
Marta Giaccari and Elena Levtchenko
Dear ERKNet Member,
Jan Halbritter from Berlin Charité and Emilie Cornec Le Gall from Brest University are kindly asking you for your help regarding the identification of patients with pathogenic variants in OFD1. OFD1 has been identified as the causative gene in oro-facial-digital syndrome (OFD) more than 20 years ago. OFD1 is an X-linked disease that is usually embryonic lethal in males affected. However, females may present with syndromic or non-syndromic disease partially mimicking PKD in adulthood. On the basis of a bicentric cohort (n>20), we initiated clinical and functional evaluation. For further clinical comparison, we would love to include more cases suffering from this rare disorder. According to our preliminary data, we hypothesize that OFD1 is largely underrecognized in adult females presenting with atypical cystic kidney disease, notably when syndromic presentation is missing.
This survey is intended for all physicians who manage PKD patients to help catching the full spectrum of OFD1-associated disease. Contribution of fully characterized patients will result in a co-authorship (> 2 patients) or banner authorship (1-2 patients).
We kindly request your assistance by letting us know, if you have identified patients with this disorder at your institution. Please provide your contact details at https://www.surveymonkey.com/r/OFD1patients
(please copy/paste, if the link is not working). The team from Berlin Charité will get in touch with you directly.
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Jan Halbritter, Emilie Cornec-Le Gall and the teams at Berlin Charité and Brest University
***This study is supported by the ERKNet WG on Metabolic Disorders***
Dear ERKNet Member,
Our colleagues from Berlin Charité are kindly asking you for your help regarding the identification of patients with biallelic variants in BCS1L (https://www.omim.org/entry/603647?search=BCS1L&highlight=bcs1l).
Biallelic mutations in BCS1L are causally related with a mitochondrial disease (Complex III deficiency) that has various renal and extrarenal manifestations. On the kidney level, it primarily leads to Fanconi syndrome, RTA, and nephrocalcinosis.
On the basis of our index case, we initiated functional characterization by means of huREC-based assays including mito-stress. For further clinical comparison, we would love to include more cases suffering from this ultra-rare disease.
We kindly request your assistance by letting us know, if you have identified patients with this disorder at your institution. Please provide your contact details below. The team from Berlin Charité will get in touch with you directly
https://de.surveymonkey.com/r/BCS1Lpatients
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Jan Halbritter and team, Berlin Charité
***This study is supported by the ERKNet WG on Metabolic Disorders***
Dear ERKNet Member,
On behalf of Dr. Claus Schmitt, lead of the ERKNet Pediatric CKD/Dialysis Working Group, we invite you to participate in a survey on Intraperitoneal Pressure Measurements (IPPM).
This study, conducted by Ariane Zaloszyc and Claus Schmitt, aims to gather insights into current practices and experiences with IPPM in European pediatric dialysis centres. Although IPPM has been in use for over 20 years to optimize peritoneal dialysis (PD) dwell volume, there is still a lack of standardization and limited scientific evidence supporting its effectiveness. Given the importance of high-quality PD in achieving positive outcomes for our pediatric patients, standardizing IPPM practices could be pivotal.
Your input will help to better understand current practices and inform future scientific initiatives to improve the quality of care in pediatric dialysis. The survey is brief and should take no more than 10 minutes to complete.
To participate, please click on the following link: https://shorturl.at/SDfNx
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If you have any questions or require further details, please feel free to reach out.
Thank you very much for considering this invitation.
Best regards,
Your ERKNet Team
On behalf of Ariane Zaloszyc and Claus Schmitt
This survey on "Cystinuria and the availability of cystine-binding drugs" was inititazed because of reports that these drugs are not or only limited available for treatment of cystinuria in many countries.
To access the survey, please follow this link or QR code below which will bring you to an electronic data capture system. Please fill in the entire survey as we will only process fully completed surveys. The survey will be automatically locked after you have finished the survey.
Thank you very much for your participation. For further questions, please contact: Rik Olde Engberink, r.h.oldeengberink@amsterdamumc.nl, Aude Servais, Elena Levtchenko
We are pleased to invite you to participate in an important research study aimed at understanding the long-term prognosis and potential adverse effects associated with CUBN deficiency. This study is led by Dr. Aude Servais and Dr. Elsa Ferriere from Necker Hospital, Paris.
Patients with biallelic pathogenic variants in the CUBN gene display chronic proteinuria with childhood onset. Previous cohort studies showed that patients have normal renal function, even in adulthood. Our research seeks to gather comprehensive data to better understand the long-term outcomes for individuals with this condition.
If you would like to participate in the survey, please click on the following link: www.surveymonkey.de/r/ERKNet_CUBNvariants
The survey is open until 30th September 2024. Feel free to forward this survey to any interested colleague who may wish to participate.
Contributors who provide substantial information will be acknowledged as co-authors in any resulting publication.
If you have any questions or need further clarification, please contact Elsa Ferriere at elsa.ferriere@aphp.fr.
The EUROCYS subregistry team kindly invite you to participate in our survey regarding the practices and habits at your center for managing cystinuria patients
Your insights are invaluable in advancing our understanding of center habits and improving patient care.
If you would like to participate in the survey, please click on the following link: https://de.surveymonkey.com/r/Eurocys_diet
We thank you very much for your participation. For further questions please contact Yann Nedelec (yann.nedelec@aphp.fr)
started April 2024
As part of our ongoing commitment to optimizing patient care we regularly monitor key performance indicators in our ERKReg Registry.
We noticed that only 20% of children with CKD and on dialysis who are small for height receive recombinant human growth hormone (rhGH) therapy at any time during follow-up. This is surprising since growth hormone therapy has been recommended as first-line therapy of uremic growth failure for many years.
To address this discrepancy and better understand the underlying reasons, we reached out relevant centres for their feedback. This initiative will help us us gain insights into local patient management practices and identifying areas for improvement.
Closed ERKNet Surveys
ERKNet research surveys conducted between 03/2019-02/2025
ERKNet Survey on Green Dialysis Practices | February 2025
Investigators: Savino Sciascia, Marco, Manuel, Roberta Fenoglio, Dario Roccatello (HCP San Giovanni Bosco & University of Turin, Italy)
Aim: To assess the implementation of environmentally sustainable dialysis practices across referral centers for rare diseases in Europe. The survey seeks to identify current practices, challenges, and opportunities in green dialysis, fostering collaboration and improvements within the network.
Responses: The survey received 34 responses.
Current status: The survey has officially closed, and data analysis is underway.
ERKNet Survey on GATA3 Mutations Causing HDR Syndrome | September 2024
Investigators: Jeroen de Baaij (Radboud UMC, Nijmegen)
Aim: To collect cases of GATA3 mutations causing HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and examine their electrolyte balance, particularly concerning magnesium homeostasis. Initially, the goal was to gather the names of physicians caring for these rare patients, with further data collection planned at a later stage.
Responses: The survey received 33 responses, with 23 respondents following up with data from a total of 71 patients.
Current status: The survey has officially closed, and data analysis is underway. A publication is in preparation, and additional experimental data is being gathered to complement the clinical findings.
ERKNet Survey on Gitelman Syndrome | September 2024
Investigators: Ewout Hoorn, Michiel Wieers, Rotterdam
Initiated by: Tubulopathies Working Group
Aim: To analyze clinical practices and treatment approaches for pediatric and adult patients with a clinical and/or genetic diagnosis of Gitelman syndrome. The survey excludes patients with acquired Gitelman syndrome or Gitelman-like syndrome due to variants other than SLC12A3. The project will be extended by including a follow-up survey among Dutch patients to gain a patient perspective.
Responses: The survey was opened 855 times, with 512 fully and correctly filled responses, reflecting a 60% completion rate. Over 500 cases were submitted by nephrologists from 15 countries, with France leading in participation.
Current status: The survey has officially closed, and the data is currently being analyzed.
ERKNet Survey on Cut-Off Values for Phosphate and PTH | June 2024
Investigators: Stefanie Häberle (WG Pediatric CKD/Dialysis leads)
Aim: To gather the cut-off values used by ERKNet centers in their daily practice for valid analysis and interpretation of the two key performance indicators: serum phosphorus and PTH.
Responses: 38 responses from different units/HCPs across ERKNet, with good coverage throughout Europe.
Current status: The data has been analyzed and was presented at the 8th Annual Meeting in Venice.
ERKNet Survey on Anesthesia and ICU Care in Pediatric Kidney Transplantation | December 2023
Investigators: Marieke Voet (Radboud UMC, Nijmegen), Marlies Cornelissen (Radboud UMC, Nijmegen)
Aim: To survey (pediatric) anesthesiologists and ICU doctors regarding their care practices for pediatric kidney transplant patients. The results aim to form the basis for a consensus guideline in this specialized area of care.
Current status: The survey has concluded, and the results were published in 2023. The publication can be accessed here:
Anesthesia and ICU care in pediatric kidney transplantation.
Persistent hypotension in anephric children | June 2023
Investigators: Justine Bacchetta; Jerome Harambat; Stephanie Tellier, Toulouse
Aim: To gather observations of prolonged hypotension in anephric children, a very rare but serious event.
Current status: The survey is finished, and data analysis is yet to be conducted.
International survey of Inverted Formin nephropathy | May 2023
Investigator: Peter Conlon, Dublin
Aim: To collect clinical and genetic data from patients or families with inverted formin nephropathy treated by ERKNet members to understand the history of this rare disease.
ERKNet Survey | Patients with SLC26A1 or SLC13A1 Mutations
Investiagtor: Anja Pfau, Felix Knauf
Aim: Although SLC26A1 and SLC13A1 are key for sulfate reabsorption in the kidney, little is known about their mutations in humans. To address this, ERKNet members from Charité in Berlin will collect data on patients with these mutations, focusing on sulfate-related symptoms like musculoskeletal issues and kidney stones to better define their clinical profile.
Current status: The planned project had to be discontinued because the required approval for receiving the samples could not be obtained.
TRCP6 Nephropathy Project | May 2023
Investigator: Peter Conlon, Dublin
Aim: To study TRCP6 nephropathy patients or families to gain insight into the disease's history.
Current status: Survey recruitment is currently paused. A manuscript has been generated and is in the final stages of submission to Nephrology Dialysis Transplantation (NDT). The team is awaiting the outcome of this submission.
Cystinosis in your centre 2022 | April 2022
Investigators: Aurélia Bertholet-Thomas, Lyon; Justine Bachetta, Lyon; Elena Levtchenko, Leuven (WG metabolic nephropathies)
Aim: To update knowledge on the global health situation of patients with nephropathic cystinosis, to highlight persistent territorial disparities.
Current status: The results of the survey have been published in Pediatric Nephrology. The publication can be accessed here:
ERKNet collaboration request | January 2022
Investigators: Roman-Ulrich Müller, Christian Frezza, Cologne
Aim: To look for partners that can provide tumour samples from HLRCC in the framework of scientific collaboration.
Current status: This project was continued and led to a survey on HLRCC this year. The resulting interaction has now led to a first publication, endorsed by ERA GK, ERKNet, Genturis, eUROGEN, IKCC, and the ESP.
ePAG Driven ERKNet Survey | Electrolyte Supplement Products | 2021/22
Investigators: ERKNet patient advocacy group (ePAG), coordinated by Susana Carvajal Arjona
Aim: To identify available electrolyte supplement products and understand reimbursement practices across EU member states.
Current status: The survey was launched in 2021/22, collecting data from 19 ERKNet centers, with participation from 15 expert centers across different countries. After collecting and reviewing the data, the ePAG group compiled a report and presented it to the Working Group of Tubulopathies, incorporating feedback from medical experts. In 2024, the group requested approval to make the report official at the ERKNet Annual Meeting and is currently awaiting the decision.
The survey results will support the creation of a list of equivalent products, which will be published on the ERKNet website, and help advocate for equal reimbursement policies throughout the EU.
NDSAIs in NDI or Bartter | November 2021
Investigators: Detlef Bockenhauer, Francesca de Zen, Francesco Emma (WG tubulopathies)
Aim: To study the effect of long-term use of non-steroidal anti-inflammatory drugs (NSAID) on kidney function (as assessed by creatinine).
Response rate: 455
Current status: Data is being analyzed
GAMOS survey | Oktober 2021
Investigators: Dieter Haffner, Nele Kanzelmeyer, Hannover (WG hereditary glomeruopathies)
Aim: 1) to further characterize the clinical phenotype, especially specifying the renal and extra-renal manifestations, 2) to identify genotype-phenotype correlations, and 3) to collect information regarding clinical management and outcome.
Current status: The survey was not carried out due to a lack of responses.
Cinacalcet in children | October 2021
Investigators: Justine Bachetta, Sacha Flammier, Dieter Haffner, Rukshana Shroff, Claus Peter Schmitt (WG pediatric CKD and Dialysis)
Aim: To analyze the clinical indication, safety and efficacy of this calcimimetic in the youngest dialysis populations.
Current status: The results have been published in several articles, which are accessible here:
Safety and Efficacy of Cinacalcet in Children Aged Under 3 Years on Maintenance Dialysis
Alpart study | October 2021
Investigators: Titia Lely, Albertien van Eerde, Utrecht (WG hereditary glomerulopathies)
Aim: Retrospective cohort study to compare pregnancy outcomes of women with COL4A3-5 related disease (Alport syndrome, AS) to women with other chronic kidney diseases.
Response rate: 139
Current status: The data has been analyzed and published. The publication can be accessed here:
Pregnancy outcomes in women with Alport syndrome.
Long-term outcome of childhood idiopathic nephrotic syndrome | July 2021
Investigators: Giulia Bassanese, Marina Vivarelli, Licia Peruzzi (WG immune glomerulopathies)
Aim: To collect data that will improve the understanding of the natural history of idiopathic nephrotic syndrome
Current status: The survey has been completed. The results were presented at the 2023 ERKNet meeting, and the abstract was awarded Best Oral Presentation at the 2023 ESPN meeting in Vilnius. The paper is currently being finalized for publication.
Membranous nephropathy in childhood | February 2021
Investigators: Marina Vivarelli, Rome; Julien Hogan, Paris; Pierre Ronco, Paris (WG hereditary glomerulopathies)
Aim: To identify European centres that have children affected by this rare glomerular disease, to set up a platform for a larger study for appropriate antigenic screening of these children
Patients with mutations in the sodium-phosphate cotransporter geneses (SCL3A3, SLC3A1) | February 2021
Investigators: ERKNet/ESPN. Dieter Haffner, Max Brunkhorst, Hannover; Francesco Emma, Rome; Elena Levtchenko, Leuven. (WG tubulopathies)
Aim: To analyze the natural history of these rare diseases, address genotype-phenotype associations, and to explore the use of phosphate supplementation.
Response rate: 188
Current status: The survey closed on May 30, 2021. The data analysis is complete, and the manuscript is currently under review in Kidney International (KI).
Survey on primary coenzyme Q10 deficiency | Oktober 2020
Investigators: ERKNet, PodoNet, ESPN. Stefania Drovandi, Genoa; Beata Lipska, Gdansk, Franz Schaefer, Heidelberg (WG hereditary glomeruopathies)
Aim: To analyze the natural history of the disease, describe the spectrum and extent of extrarenal disease manifestations, address genotype-phenotype associations, and further explore the efficacy and clinical utility of CoQ10 treatment.
Current status: Results published. The publication can be accessed here:
Survey on HNF1B | June 2020
Investigators: Joost Schanstra, Stephane Decramer, Toulouse (WG CAKUT)
Aim: To collect data on a large set of patients with HNF-1ß gene anomalies and assess the influence of the type of HNF-1ß anomaly, transmission and ultrasound presentation on disease progression.
Response rate: 109
Current status: Data collection closed on June 20, 2021. Data is being analyzed
Children on immunosuppressant medication with COVID-19 | March 2020
Investigators: Kjell Tullus, Matko Marlais, London; Marina Vivarelli, Rome (WG Immune Glomerulopathies); Lars Pape, Hannover, Burkhard Tönshoff, Heidelberg (WG Pediatric Transplantation)
Aim: To gather information on cases of COVID-19 in children on immunosuppressant medication from the global pediatric community. Provide information which may help for clinical decision making and advice to patients.
Response rate: 125
Current status: Results published. The publications can be accessed here:
Survey on Fanconi-Bickel- Syndrome | April 2020
Investigators: Francesco Trepiccione, Naples; Aude Servais, Paris (WG Metabolic Nephropathies)
Aim: To obtain information on clinical features, diagnosis, therapy, and outcome of this ultrarare disease to get a close-up view of the disease and its variabilities to improve patient care.
Response rate: 94, data collection ongoing until 15th December 2020
Current status: The manuscript is in preparation. Preliminary data were presented at the latest meeting of the Metabolic and Stone Working Group in Venice.
Survey on Nephrogenic Diabetes Insipidus |June 2019
Investigator: Detlef Bockenhauer, London (WG Tubulopathies)
Response rate: 315
Current status: Results published. The publication can be accessed here:
ANCA associated vasculitis in childhood | December 2019
Investigators: Kjell Tullus, London; Marina Vivarelli, Rome (WG Immune Glomerulopathies)
Aim: better understanding of the burden of this disease, current treatment practices and long-term outcomes.
Response rate: 375, data are currently being analyzed
Current status: Results published. The publication can be accessed here:
Dent’s disease type 1 Survey | November 2019
Investigators: Gema Ariceta, Barcelona(WG Tubulopathies)
Aim: To investigate the prevalence, genetic variability, the clinical phenotype, and the long-term outcome of patients, as well as current treatment practices around Europe.
Response rate: 103
Current status: Draft manuscript finished.
Survey on Hantavirus | September 2019
Investigators: Roman Müller, Cologne
Aim: To prepare interactions on Hantavirus infections causing kidney failure, a first insight into the situation at ERKNet centres has been obtained.
Cystinuria Survey | September 2019
Investigators: Aude Servais, Paris, for the WG Metabolic and Stone Disorders
Aim: To create a specific cystinuria registry affiliated with ERKReg to better understand the long-term outcome of patients with cystinuria, as well as current treatment practices.
Response rate: 30
Current status: The survey was circulated in July for feedback. The next step is to send out the survey to collect the actual data, with plans to do so in September.
Survey on the current status of HRQoL assessment in ERKNet | July 2019
Investigators: Lars Pape, Hannover, for the QoL & Transition Taskforce
Aim: To measure and compare the quality of life of children and adults with rare kidney diseases and to develop and validate improvement strategies. The survey measures the current status of HRQoL assessment in ERKNet centres.
Response rate: 29
Survey on Nephrogenic Diabetes Insipidus |June 2019
Investigator: Detlef Bockenhauer, London (WG Tubulopathies)
Response rate: 315
Current status: Results published. The publication can be accessed here:
Landscape of current practice in aHUS treatment with eculizumab in Europe | May 2019
Investigator: Michal Malina, Newcastle (WG TMA)
Aim: To gather experience about the current practice of eculizumab treatment in countries throughout Europe
Response rate: 86, publication in preparation
Decline in GFR in FHHNC survey | April 2019
Investigators: Martin Konrad (WG tubulopathies)
Aim: Analysis of the evolution of renal function in FHHNC, either caused by CLDN16 or 19 defects
Response rate: 259 (56 from ERKNet centres)
Current status: Results are currently being analyzed