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
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 the link or QR code below which will bring you to an electronic data capture system. https://data.castoredc.com/survey/LZQ6963A
Thank you very much for your participation. For further questions, please contact: Rik Olde Engberink, r.h.oldeengberink[at]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[at]aphp.fr.
This Delphi survey is aimed at consolidating expert opinions on the management of antibiotic prophylaxis in patients receiving anti-complement therapy. This survey is part of an ongoing effort to standardize care practices and improve patient outcomes across various medical settings.
The survey seeks to gather insights from leading healthcare professionals like yourself on the preferred strategies for antibiotic prophylaxis across different patient demographics, including adults, pediatrics, and transplanted patients both in adult and pediatric categories. The survey addresses scenarios where antibiotic prophylaxis might be recommended and explores alternatives for patients with specific allergies.
To participate, please click on the following link https://de.surveymonkey.com/r/T7MTJJY.
The survey will take approximately 5 minutes to complete. Your responses will be confidential and will not be linked back to you in any published materials.
We value your contribution and are grateful for the knowledge you bring to this important study.
Should you have any questions or require further information, please do not hesitate to contact us directly at savino.sciascia[at]unito.it.
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[at]aphp.fr)
Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is one of the many rare diseases lacking awareness and collaborative research. Consequently, an interdisciplinary team of international experts (including nephrologists, urologists, geneticists, radiologists, oncologists, dermatologists, pathologists and gynecologists from countries all around the world), basic researchers and patient advocates has set out to establish the HLRCC Alliance in collaboration with the HLRCC Foundation.
The mission of this alliance focusses on improving quality of life and health for patients with HLRCC through providing a platform for patient advocacy initiatives, research, excellent education and networking of caregivers, researchers, patients and their families.
We are currently conducting a survey, to estimate the number of HLRCC patients and treatment centres in four ERNs (GENTURIS, EUROCAN, eUROGEN and ERKNet). Depending on the results, ERKNet will establish an ERKReg-based registry for HLRCC.
To participate in the survey, please click on following link: Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) - Baseline Survey (surveymonkey.com)
Please contact Roman Müller (roman-ulrich.mueller[at]uk-koeln.de) or Jan Degenhardt (jan.degenhardt[at]uk-koeln.de) for any questions or more information.
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.
The goal of this project, initiated by our ERKNet member Kalman Tory and his colleagues, is to precisely characterize the relationship between the degree of proteinuria and the age at diagnosis in hereditary podocytophathies. They expect to determine the highest age at which a genetic podocytopathy can present with a severe degree of proteinuria, and thus to limit the number of patients with late-onset SRNS referred for genetic investigation.
If you would like to participate in the survey, please click on the following link: https://www.surveymonkey.de/r/J87WB35
Please include only patients (children and adults) with a proven hereditary podocytopathy. Multiple affected family members can be included. It is important to provide data at the first diagnosis of proteinuria (before the administration of ACEI or ARB).
We thank you very much for your participation. For further questions please contact Kalman Tory [tory.kalman[at]med.semmelweis-univ.hu].
Although SLC26A1 and SLC13A1 are considered critical for sulfate reabsorption in the kidney, little is known about mutations of these transporters in humans. Therefore, our ERKNet members from Charité in Berlin plan to collect data from patients with these mutations. They will focus on sulfate-related symptoms, i.e. musculoskeletal symptoms as well as kidney stones, to better characterize the clinical phenotype of patients with SLC26A1 and SLC13A1 mutations.
If you have identified patients with SLC26A1 or SLC13A1 mutations (heterozygous or homozygous), they would be very pleased to collaborate with you on this project. Please email Anja Pfau [anja.pfau[at]charite.de] and Felix Knauf [felix.knauf[at]charite.de].
In a joint project with collaborators from Taiwan, Jan Halbritter is asking on behalf the AD-stuctural kidney disorders working group for your help regarding the identification of additional ADPKD-patients with a certain disease-causing variant in PKD2. This very PKD2 variant has recently been identified to constitute a frequent founder variant in Taiwan (PMID: 35778421), and by preliminary analyses seems to represent a relatively frequent PKD-variant in Europe too (NM_000297.4 (PKD2): c.2407C>T (p.Arg803Ter), https://www.ncbi.nlm.nih.gov/clinvar/RCV001249119/)
Identification of additional patients with this PKD2-variant will help to build up a European cohort (n=x) in addition to the existing cohort from Taiwan (n=200) to jointly investigate modifiers of disease.
As a general reminder, we are still looking for patients with this rare variant. Your contribution is invaluable in helping us expand this study.
As ethical approval is an important factor, only patients with signed informed consent from ERKReg are eligible for the survey. Rest assured that your responses will remain completely confidential, and no identifying information will be collected.
To participate in the survey, please follow this link: https://www.surveymonkey.de/r/GPH2Z2D
The project abstract was selected for presentation at the 8th Annual ERKNet Meeting in Venice. In addition, it was selected for presentation at the 61st ERA Congress in Stockholm, where it was named one of the best abstracts submitted by a young author (https://academic.oup.com/ndt/article/39/Supplement_1/gfae069-0005-1936/7677152).
We kindly request your assistance in completing the survey. Should you have any questions or concerns regarding the survey or the research itself, please feel free to contact Jan Halbritter [jan.halbritter[at]charite.de] directly.
ePAG driven ERKNet Survey on Electrolyte Supplement Products
Our ERKNet patient advocacy group (ePAG) has started an inventory project to find out which electrolyte supplement products are available and what the reimbursement practice is in the individual EU member states. The results of this survey will allow us to create a list of equivalent products (to be published on the ERKNet Website) and lobby for equal reimbursement policies throughout the EU.
If you are interested to help us identifying the main electrolyte supplement products prescribed in your country, please get in touch with our ePAG patient manager Vera Corneslius (vera.cornelius@med.uni-heidelberg.de) and the ePAG lead Susana Carvajal Arjona (s.carvajal[at]hipofam.org).
Closed ERKNet Surveys
ERKNet research surveys conducted between 03/2019-09/2024
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.
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