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
ERKNet Survey on Severity in function of the age-at-onset of hereditary podocytopathies
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].
ERKNet Survey on patients with SLC26A1 or SLC13A1 mutations
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].
ERKNet Survey on the prevalence of PKD2-founder variant in Europe
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 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
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.
ERKNet Survey on GATA3 mutations causing HDR syndrome
Our ERKNet members from HCP Radboud UMC Nijmejen are conducting a survey to collect cases of GATA3 mutations causing HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) to examine their electrolyte balance, in particular related to Mg homeostasis. Since these patients are very rare, at this stage they just want to collect the names of physicians who care for these patients. They will then ask further questions at a later stage.
If you have patients with GATA3 pathogenic variants and would be interested in collaborating in this project please send an e-mail to Jeroen de Baaij (jeroen.debaaij[at]radboudumc.nl).
ERKNet Survey on Anesthesia and ICU Care in Pediatric Kidney Transplantation
The research team at ERKNet HCP Radboud UMC Nijmejen is conducting a survey among (pediatric) anesthesiologists and/or ICU doctors about their care for pediatric kidney transplant patients. The results of the survey could serve as a basis for a consensus guideline.
If you are interested to participate, please get in touch with Marieke Voet, pediatric anesthesiologist (Marieke.Voet[at]radboudumc.nl) and Marlies Cornelissen, pediatric nephrologist (Marlies.Cornelissen[at]radboudumc.nl).
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 03/2019-06/2023
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.
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.
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.
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.
NDSAIs in NDI or Bartter | November 2021
Investigators: Detlef Bokenhauer, 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.
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.
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: Data is being analyzed
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
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: Survey closed on May 30, 21. Data is being analyzed.
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.
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.
Survey on Fanconi-Bickel- Syndrome | April 2020
Investigators: Francesco Treppicione, 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: Manuscript in preparation.
Survey on Nephrogenic Diabetes Insipidus |June 2019
Investigator: Detlef Bockenhauer, London (WG Tubulopathies)
Response rate: 315
Current status: Results published. Lopez-Garcia et al., 2020. Treatment and long-term outcome in primary nephrogenic diabetes insipidus https://pubmed.ncbi.nlm.nih.gov/33367818.
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. Marlais et al., AJKD 2022. Clinical Factors and Adverse Kidney Outcomes in Children With Antineutrophil Cytoplasmic Antibody–Associated Glomerulonephritis. DOI: https://doi.org/10.1053/j.ajkd.2022.05.013
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
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.
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