Paediatrics I

301114, - 301301, 302078, 202012, 202016, 304007, 304003

3D bioprinting, antibody-mediated disorders, autoinflammation, cancer biology, Cell biology, diabetes, drug development, drug discovery, hemostaseology, inflammatory CNS diseases, inherited metabolic disorders, molecular genetics of rare diseases, and Tissue Engineering

Paediatric Gastroenterology,Hepatology and liver transplantation

Functional consequences of gene defects in genome-edited cell cultures and intestinal organoids from human biopsies. Prevalence of paediatric acute liver failure and cholestatic liver disease and evidence for the treatment of gastrointestinal diseases.

Identification of genetic variants underlying monogenic conditions in paediatric gastroenterology and hepatology and other paediatric fields.

The role of the gut liver axis and the gut microbiome in cholestatic liver diseases, paediatric inflammatory bowel disease and metabolic dysfunction associated steatotic liver disease.

Characterization of hepatic immune cells in association with paediatric acute hepatitis and autoimmune liver disease.

Cancer Biology and 3D Bioprinting Core Facility

Our primary interest lies in the development of advanced, vascularized “tumour-on-chip” and “body-on-chip” systems, in which multi-cell-type tissue equivalents are 3D-bioprinted into custom-designed fluidic chip devices. By simulating the response of human tissues and primary tumour samples to drug treatment, we are developing human cell-based alternatives to animal experiments and complex test models for precision medicine approaches.

Paediatric Haematology-Oncology

Our research focuses on clinical studies to optimize childhood cancer treatment to develop and implement supportive care strategies, emphasizing improvements in quality of life and the integration of telemedicine.

Paediatric Rheumatology

The main research focus in paediatric rheumatology is on the development of biomarkers for autoimmune diseases in infancy and adolescence.

Inherited Metabolic Diseases / Rare Diseases

The main research focus of the inherited metabolic disease group remains the biochemical characterization of inherited metabolic diseases, including the identification of new diseases. We have implemented methods of investigating pathophysiology and evaluating treatment in diagnosed patients. There is a strong exchange and cooperation with medical and biochemical genetics.

Neuropaediatric Diseases

The main research focus is on the identification of new genetic causes of neurological diseases, including epilepsy, rare channelopathies and neuromuscular diseases. We are also focusing on acquired demyelinating syndromes, especially those associated with autoantibodies, e.g. directed against myelin oligodendrocyte glycoprotein, and on other inflammatory CNS diseases.

Paediatric Diabetes

Technical Diabetes Treatment – hybrid Closed Loop Therapy is our main research focus, with a special interest in very young children with diabetes. Another of our research interests is healthcare research in diabetes, in particular issues relating to the care of people with a migration background. Our centre is an accredited Innodia research centre, working on trials for the prevention of type 1 diabetes.

Paediatric Critical Care Medicine

Our research focuses mainly on extracorporeal therapies such as organ support in critically ill children with organ failure. Current studies include the use of ECMO in haemato-oncologic patients, the use of regional citrate anticoagulation during CRRT and outcome data in patients who require CCRT.

The molecular genetic laboratory is led by Univ. Prof. Dr Andreas Janecke. It collaborates closely with the local Institute of Human Genetics and the Institute of Cell Biology on the identification of disease-causing genetic variants and their functional characterization in cellular systems. Supported by local and international collaborations, we are helping to establish and characterize disease entities, associated phenotypic spectra and genotype-phenotype correlations. The disorders generally represent rare and ultrarare disease, and our research is intended to pave the way for informed treatment decisions.

The 3D Bioprinting Core Facility is headed by Univ. Prof. Dr Michael J. Ausserlechner and Ass. Prof. Dr Judith Hagenbuchner. It serves as a centre for 3D-bioprinting and tissue engineering at MUI. The laboratory is equipped with high-end bioprinters, including a recently acquired 2Photon Polymerization system for super-resolution bioprinting, microscopes for live-cell, confocal and surface profilometry imaging, flow cytometry, pipetting robotics, qPCR and a biosafety-level-2 cell culture. It has close collaborations within the clinic and MUI and with partners in Germany, the Czech Republic, Bulgaria and Switzerland.

The metabolic laboratory of the Department of Paediatrics I is headed by Priv.-Doz. Dr Sabine Scholl-Bürgi and Ao.Univ.-Prof. Dr Daniela Karall. We collaborate within the clinic (Univ. Prof. Dr Ausserlechner and Univ.-Prof. Dr Janecke) and with other research groups on the campus, especially in the Department of Human Genetics, the Breath Gas Research Group and the Biological Chemistry division. We also have international cooperations with other research groups in Europe.

The pediatric haematology group features dedicated research units, specialized aims, clinical routines, collaborative partnerships and core facilities, all of which underpin our clinical studies. We are investing considerable efforts in establishing and documenting the studies while developing innovative tools to record life quality.

Paediatric Gastroenterology, Hepatology and transplantation

In recent years, our group has contributed to the identification of the pathomechanism of variants in the UNC45A gene, which give rise to Microvillus inclusion disease. We have aösp characterized the prevalence and natural history of Wolcott-Rallison syndrome, a rare congentinal hepatopathy, and KIF12-associated liver disease. Togethr with international collaboration partners, the group published the first cohort of paediatric acute liver failure associated with mutations in the TRPM7 gene.

3D Bioprinting and Cancer Biology

The team of Univ. Prof. Dr Michael Ausserlechner and Ass. Prof. Dr Judith Hagenbuchner is focusing on 3D-bioprinted “organ-on-chip” and “body-on-chip” models for drug validation, precision medicine and disease modeling to study resistance to cancer therapy, tumour angiogenesis, metabolic disorders and aging. We developed a patented strategy to fabricate complex, perfused 3D tissue equivalents for skin, mesothelium, liver and various tumour microenvironments in fluidic chip devices, which was awarded the “State Prize for Alternatives to Animal Experimentation 2022” of the Austrian government. We received a competitive FFG/EFRE infrastructure grant to establish a 2Photon Polymerization Nanoprinting Facility for 3D bioprinting of structures at a resolution down to 200 nm, unique at Austrian universities. Other topics investigated with partners in Innsbruck, Prague, Berlin, Plovdiv and Zürich include disease-associated mitochondrial dysfunction and drug targeting of FOXO transcription factors. The team is replacing and reducing animal experiments with its advanced, bioprinted human tissue and disease models and is working towards closing the gap between experimental animals and the use of drugs in humans.

Inherited Metabolic Disorders / Rare Diseases

The main research interests of the group of Ao.Univ-Prof. Dr D. Karall and PD Dr S. Scholl-Bürgi lie in inherited metabolic disorders, with a focus on propionic/methylmalonic acidaemias, long-chain fatty-acid oxidation disorders and disorders of energy metabolism on the clinical, epidemiological, biochemical and molecular levels. We are also evalutating and implementing nutrition therapy, with a growing focus on ketogenic diets. In recent years, we have identified new disorders (e.g. SPENCD, PIGQ, TXNIP, CD36) and characterized known disorders (e.g. long-chain fatty acid oxidation disorders, GLUT1 deficiency syndrome). We are seeking close cooperation with those affected to investigate their quality of life and needs in everyday life. Our work on inherited metabolic disorders is embedded in the activities of the Centre of Rare Diseases in Innsbruck (Zentrum für Seltene Krankheiten Innsbruck), which has coordinated networking between clinical and research colleagues on the campus and nationally since 2015.

Paediatric Haematology-Oncology

Our research is dedicated to translating bench findings into innovative clinical approaches that capture patient needs. We are participating in over 50 clinical trials—including Phase I, II and III studies, as well as in nontherapeutic research on biology, patient-reported outcomes and late effects of treatment. Our work addresses the challenges of our health system by saving costs and enhancing care delivery without barriers for children, adolescents and young adults with cancer and haematological diseases in North Tyrol, Vorarlberg and South Tyrol. Our mission is to enhance the engagement and empowerment to improve their quality of life.

Paediatric Rheumatology

We are focusing on the role of the complement system in autoinflammatory diseases and provide patient data to two international registries: BIKER (the biological registry of the German society for paediatric and adolescent rheumatology – Gesellschaft für Kinder-und Jugendrheumatologie) and EUROFEVER (PRINTO registry for autoinflammatory diseases). We are also part of Pro-Kind, an initiative that develops therapeutic protocols to standardize and harmonize the treatment of patients with paediatric rheumatic diseases and to improve disease outcome. In 2019, the initiative received funding from the GBA to evaluate the use and effectiveness of the protocols. 500 newly diagnosed patients with childhood rheumatic diseases (polyarticular JIA, oligoarticular JIA, enthesitis-associated JIA, systemic JIA, juvenile dermatomyositis, systemic lupus erythematosus) will be enrolled in a registry study and followed prospectively for a year.

Pediatric Rheumatology: Core Documentation

We conduct annual documentation using a general physician form and seven disease-specific physician forms, as well as two general patient questionnaires. In addition to standardized instruments (e.g. CHAQ, SLEDAI, BVAS), the forms request information on therapy, surgeries, joint involvement, laboratory findings, absences and hospital stays, among other matters.

Pediatric Rheumatology/ EUROFEVER

Eurofever Project – The Eurofever registry

The main limitation to our understanding of these rare conditions is related to the extreme fragmentation of the cases, which are spread over different centres and countries. Children are usually referred to the centres of Pediatric Rheumatology with the expertise for the diagnosis and care of patients with chronic inflammatory conditions. Adult patients are followed by few specialized national referral centres. The main aim of a registry for autoinflammatory disease is to link all the European centres that follow  diagnosed or suspected patients with autoinflammatory diseases under the supervision of experts for each disorder. The participation of non-European centres would be welcome.

The primary goal of the Eurofever registry is to collect information on the clinical presentation, outcome and response to treatment of patients affected by the major autoinflammatory diseases. Its secondary goals are to provide evidence-based classification criteria for autoinflammatory diseases lacking a precise genetic characterization; to develop guidelines for genetic testing for each disease; to create a permanent network of centres dealing with patients affected by autoinflammatory diseases for clinical, pathogenic, genetic and therapeutic studies; to identify informative families or clusters of  genetically negative patients for future genetic studies; and to establish a baseline cohort for outcome studies.

Neuropaediatric Diseases

Our research focuses on international collaborations (1) to describe rare neurological diseases (Ehlers Danlos, KCNQ2, GABRG2, GRIN2A/B mutations and ring chromosome 18) and (2) to evaluate biomarkers and epidemiological aspects of antibody-mediated or inflammatory CNS disorders, such as multiple sclerosis and MOG-antibody-associated disorders (MOGAD). PD Dr Matthias Baumann and Mag. Dr Christian Lechner are striving to improve the clinical care of children and adolescents with rare neurological disorders, e.g. by participating in a European expert consensus on diagnostic criteria for MOGAD. We are also participating increasingly in multicentre studies, such as a clinical trial for rare epilepsies and a prospective registry study for paediatric patients with a stroke, and are preparing two studies in the context of primary headache disorders in children and adolescents, an extremely important topic in view of the frequency of the disorders.

Diabetes Registries

Assoc. Prof. PD Dr Sabine Hofer

Since 2013, our main focus has been on the international comparison of diabetes management and outcome parameters in children and adolescents with diabetes with various European and foreign countries.

Innodia Research Centre

Assoc. Prof. PD Dr Sabine Hofer

Since 2024, our centre has been an accredited Innodia research center with the aim of conducting T1D prevention studies.

Diabetes Treatment in Early Childhood

Assoc. Prof. PD Dr Sabine Hofer

Closed loop studies – Horizon 2020 Grant – KidsAP, ongoing until 31.12.2021, see NEJM publication 2022

Genetic Diabetes

Univ.-Prof. Dr Elisabeth Steichen and Assoz. Prof.ⁱⁿ PD Dr.ⁱⁿ Sabine Hofer are working on rare neonatal forms and manifestations of diabetes and hyperinsulinism.

Paediatric Critical Care Medicine

Our research is largely focused on extracorporeal therapies in critically ill children with organ failure, such as extracorporeal membrane oxygenation (ECMO), continuous renal replacement therapy (CRRT) and therapeutic plasma exchange (TPE). We are well connected and cooperate with other centres in Europe, North America and Australia. Ass.Prof.PD Dr Gerard Cortina is Chair of the critical care nephrology section of the European Society for Pediatric & Neonatal Intensive Care (ESPNIC), which undertakes education and research on acute kidney injury (AKI) and CRRT in children. We are participating in the Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK) study, , the largest study on CRRT in critically ill children, coordinated by Cincinnati Children´s Hospital and are studying haemolysis in pediatric cardiac ECMO in cooperation with the Royal Children´s Hospital in Melbourne, Australia.

Pediatric Gastroenterology and Hepatology

• Schlieben LD, Achleitner MT, Bourke B, Diesner M, Feichtinger RG, Fichtner A, Flechtenmacher C, Hadzic N, Hegarty R, Heilos A, Janecke A, Konstantopoulou V, Lenz D, Mayr JA, Müller T, Prokisch H, Vogel GF. Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure. Hepatol Commun. 2024 Nov 29;8(12):e0598. doi: 10.1097/HC9.0000000000000598. eCollection 2024 Dec 1.
• Aldrian D, Bochdansky C, Kavallar AM, Mayerhofer C, Deeb A, Habeb A, Romera Rabasa A, Khadilkar A, Uçar A, Knoppke B, Zafeiriou D, Lang-Muritano M, Miqdady M, Judmaier S, McLin V, Furdela V, Müller T, Vogel GF. Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study. Liver Int. 2024 Mar;44(3):811-822. doi: 10.1111/liv.15834. Epub 2024 Jan 17.
• Mayerhofer C, Kavallar AM, Aldrian D, Lindner AK, Müller T, Vogel GF. Efficacy of Elimination Diets in Eosinophilic Esophagitis: A Systematic Review and Meta-analysis. Clin Gastroenterol Hepatol. 2023 Aug;21(9):2197-2210.e3. doi: 10.1016/j.cgh.2023.01.019. Epub 2023 Jan 31.
• Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29.

• Kohlmaier, Benno; Skok, Kristijan; Lackner, Carolin; Haselrieder, Greta; Mueller, Thomas; Sailer, Sabrina; Zschocke, Johannes; Keller, Markus A.; Knisely, A. S.; Janecke, Andreas R.: Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency. Int J Obes. 2024; 48(12); 1818-1821.
  PubMed: 39277655doi: 10.1038/s41366-024-01634-z

Cancer Biology and 3D Bioprinting

• Kuznetsov AV, Ausserlechner MJ. Research of Mitochondrial Function, Structure, Dynamics and Intracellular Organization. Int J Mol Sci. 2023 Jan 3;24(1):886. doi: 10.3390/ijms24010886. PMID: 36614328; PMCID: PMC9821255.

• Wu, D; Pang, S; Berg, J; Wei, Y; Ali, ASM; Röhrs, V; Tolksdorf, B; Hagenbuchner, J; Ausserlechner, MJ, Deubtzer, HE; Gurlo, A; Kurreck, J. Bioprinting of Perfusable Vascularized Organ Models for Drug Development via Sacrificial-free Direct Ink Writing, Advanced Functional Materials, 2024, 2314171, in press, doi: 10.1002/adfm.202314171
• Minzaghi D, Pavel P, Kremslehner C, Gruber F, Oberreiter S, Hagenbuchner J, Del Frari B, Blunder S, Gruber R, Dubrac S. Excessive Production of Hydrogen Peroxide in Mitochondria Contributes to Atopic Dermatitis. J Invest Dermatol. 2023 Oct;143(10):1906-1918.e8. doi: 10.1016/j.jid.2023.03.1680. Epub 2023 Apr 20. PMID: 37085042.

Pediatric Hematology-oncology

• Meryk A, Salvador C, Kropshofer G, Hetzer B, Rumpold G, Haid A, Schneeberger-Carta V, Holzner B, Crazzolara R.
  Pioneering sustainable treatment delivery in childhood leukemia through synchronous telemedicine-A pilot study. Int J Cancer. 2025 Mar 15;156(6):1247-1255. doi: 10.1002/ijc.35253. Epub 2024 Nov 9.
• Corbacioglu S, Lode H, Ellinger S, Zeman F, Suttorp M, Escherich G, Bochennek K, Gruhn B, Lang P, Rohde M, Debatin KM, Steinbach D, Beilken A, Ladenstein R, Spachtholz R, Heiss P, Hellwig D, Tröger A, Koller M, Menhart K, Riemenschneider MJ, Zoubaa S, Kietz S, Jakob M, Sommer G, Heise T, Hundsdörfer P, Kühnle I, Dilloo D, Schönberger S, Schwabe G, von Luettichau I, Graf N, Schlegel PG, Frühwald M, Jorch N, Paulussen M, Schneider DT, Metzler M, Leipold A, Nathrath M, Imschweiler T, Christiansen H, Schmid I, Crazzolara R, Niktoreh N, Cario G, Faber J, Demmert M, Babor F, Fröhlich B, Bielack S, Bernig T, Greil J, Eggert A, Simon T, Foell. Irinotecan and temozolomide in combination with dasatinib and rapamycin versus irinotecan and temozolomide for patients with relapsed or refractory neuroblastoma (RIST-rNB-2011): a multicentre, open-label, randomised, controlled, phase 2 trial. Lancet Oncol. 2024 Jul;25(7):922-932. doi: 10.1016/S1470-2045(24)00202-X
• Hetzer B, Meryk A, Kropshofer G, Salvador C, Riedl D, Lehmann J, Rumpold G, Haid A, Schneeberger-Carta V, Holzner B, Crazzolara R. Integration of Daily Patient-Reported Outcome Measures in Pediatric Stem Cell Transplantation. Transplant Cell Ther. 2023 Dec;29(12):776.e1-776.e7. doi: 10.1016/j.jtct.2023.09.012. Epub 2023 Sep 21
• Meryk, Andreas; Salvador, Christina; Kropshofer, Gabriele; Hetzer, Benjamin; Rumpold, Gerhard; Haid, Alexandra; Schneeberger-Carta, Verena; Holzner, Bernhard; Crazzolara, Roman: Pioneering sustainable treatment delivery in childhood leukemia through synchronous telemedicine-A pilot study.
  INTERNATIONAL JOURNAL OF CANCER. 2024; [Epub ahead of print];
  PubMed: 39520275doi: 10.1002/ijc.35253
• Salvador, Christina; Meryk, Andreas; Hetzer, Benjamin; Bargehr, Caroline; Kropshofer, Gabriele; Meister, Bernhard; Anliker, Markus; Crazzolara, Roman: Immature platelet fraction predicts early marrow recovery after severe chemotherapy associated neutropenia.
  SCIENTIFIC REPORTS. 2023; 13(1); 3371.
  PubMed: 36849723doi: 10.1038/s41598-023-30469-3

Neuropaediatric Diseases

• Peternell A, Lechner C, Breu M, Preisel M, Schimmel M, Eisenkölbl A, Zobel J, Wendel Eva-Maria, Reindl M, Rostasy K, Baumann M. Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders. Eur J Paediatr Neurol. 2024:50:86-95. doi: 10.1016/j.ejpn.2024.04.011.
• Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Epub ahead of print. PMID: 38587854; PMCID: PMC11002769.
• Carta S, Cobo Calvo Á, Armangué T, Saiz A, Lechner C, Rostásy K, Breu M, Baumann M, Höftberger R, Ayzenberg I, Schwake C, Sepulveda M, Martínez-Hernández E, Olivé-Cirera G, Arrambide G, Tintoré M, Bernard-Valnet R, Du Pasquier R, Brilot F, Ramanathan S, Schanda K, Gajofatto A, Ferrari S, Sechi E, Flanagan EP, Pittock SJ, Redenbaugh V, Reindl M, Marignier R, Mariotto S. Significance of Myelin Oligodendrocyte Glycoprotein Antibodies in CSF: A Retrospective Multicenter Study. Neurology. 2023 Mar 14;100(11):e1095-e1108.
• Julia-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibanez-Mico, Salvador; Munoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Victor; Garcia-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernandez, Antonio; Alguacil, Elena Gonzalez; Sanchez-Carpintero, Rocio; Martin del Valle, Fernando; Gonzalez, Erika Jimenez; Cabrera, Lourdes Cean; Medina-Rivera, Ines; Perez-Ordonez, Marta; Colome, Roser; Lopez, Laura; Cazorla, Maria Engracia; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Illescas, Katia Sofia; Balsells-Mejia, Sol; Mari-Vico, Rosanna; Vinas, Maria Duffo; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; de Siqueira Barros, Bruna; Nizon, Mathilde; Gjerulfsen, Cathrine Elisabeth; Muro, Valeria L.; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzabal, Alfonso; Santos-Gomez, Ana; Altafaj, Xavier; Garcia-Cazorla, Angeles: L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
  2024; 147(5); 1653-1666.
  PubMed: 38380699 doi: 10.1093/brain/awae041
• Weiss, Claudia; Becker, Lena-Luise; Friese, Johannes; Blaschek, Astrid; Hahn, Andreas; Illsinger, Sabine; Schwartz, Oliver; Bernert, Guenther; von der Hagen, Maja; Husain, Ralf A.; Goldhahn, Klaus; Kirschner, Janbernd; Pechmann, Astrid; Flotats-Bastardas, Marina; Schreiber, Gudrun; Schara, Ulrike; Plecko, Barbara; Trollmann, Regina; Horber, Veronka; Wilichowski, Ekkehard; Baumann, Matthias; Klein, Andrea; Eisenkoelbl, Astrid; Koehler, Cornelia; Stettner, Georg M.; Cirak, Sebahattin; Hasselmann, Oswald; Kaindl, Angela M.; Garbade, Sven F.; Johannsen, Jessika; Ziegler, Andreas; SMArtCARE Swiss Reg NMD Study Grp: Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
  LANCET REGIONAL HEALTH. EUROPE. 2024; 47; 101092.
  PubMed: 39434961doi: 10.1016/j.lanepe.2024.101092

Pediatric Diabetes

• Othmar Moser, Dessi P Zaharieva, Peter Adolfsson, Tadej Battelino, Richard M Bracken, Bruce A Buckinham, Thomas Danne, Elizabeth A Davis, Klemen Dovc, Gregory P Forlenza, Pieter Gillard, Sabine E Hofer, Roman Hovorka, Peter G Jacobs, Julia K Mader, Chantal Mathieu, Kirsten Norgaard, Nick S Oliver, David N O´Neal, John Pemberton, Remi Rabasa-Lhoret, Jennifer L Sherr, Harald Sourij, Martin Tauschmann, Jane E Yardely, Micheal C Riddell. The use of automated insulin delivey around physical activity and exercise in type 1 diabetes: a position statement of the European Association for the Study of Diabetes (EASD) and the International Society for Pediatric and Adolescent Diabetes (ISPAD). Diabetologia 2025 Feb;68(2):255-280 and Horm Res Paediatr DOI: 10.1159/000542287
• Catarina Limbert, Jamie Wood, Sabine Hofer, Jannet Svensson, Fergus Cameron, Roque Cardona-Hernandes, Sylvia Lyon, David Maahs. Declaration of Lisbon. Lancet Diabetes Endocrinol 2024
• Julia Ware, Janet M Allen, Charlotte K Boughton, Malgorzata E Wilinska, Sara Hartnell, Ajay Thankamony, Carine de Beaufort, Fiona M Campbell, Elke Fröhlich-Reiterer, Maria Fritsch, Sabine E Hofer, Thomas M Kapellen, Birgit Rami-Merhar, Martin Tauschmann, Roman Hovorka on behalf of the KidsAP Consortium. Eitheen-month hybrid closed loop use in very yound children with type 1 diabetes: a single arm multicentre trial. Diabetes Care 2024;47(12):1-7
• Alwan H, Ware J, Boughton CK, Wilinska ME, Allen JM, Lakshman R, Nwokolo M, Hartnell S, Bally L, de Beaufort C, Besser REJ, Campbell FM, Davis N, Denvir L, Evans ML, Fröhlich-Reiterer E, Ghatak A, Hofer SE, Kapellen TM, Leelarathna L, Mader JK, Narendran P, Rami-Mehrar B, Tauschmann M, Thabit H, Thankamony A, Hovorka R. Time Spent in Hypoglycemia According to Age and Time of Day: Observations During Closed-Loop Insulin Delivery. Diabetes Technol Ther 2023 Ju;25(7):485-491
• Julia Ware, Malgorzata E Wilinska, Yue Ruan, Janet M Allen, Charlotte K Bourghton, Sara Hartnell, Lia Bally, Carine de Beaufort, Rachel E J Besser, Fiona M Campbell, Katharine Draxlbauer, Daniela Elleri, Mark L Evans, Elke Fröhlich-Reiterer, Atrayee Ghatak, Sabine E Hofer, Julia K Mader, Womba Mubita, Parth Narendran, Tina Pettler, Birgit Rami-Merhar, Martin Tauschmann, Tabitha Randell, Hood Thabit, Ajay Thankamony, Nicola Trevelyan, Roman Hovorka on behalf of the AP@home, Cloud, DAN06 and KidsAP Consortia. Safety of user initiated Intensification of insulin delivery using Cambridge Hybrid Closed Loop Algorithm. Journal of Diabetes Science and Technology 2024

Pediatric Critical Care Medicine

• Cortina G, Daverio M, Demirkol D, et al. Continuous renal replacement therapy in neonates and children: what does the pediatrician need to know? An overview from the Critical Care Nephrology Section of the European Soceity of Paediatric and Neonatal Intensive Care (ESPNIC). Eur J Pediatr 2024; 183(2): 529-541
• Gist KM, Menon S, Cortina G, et al; WE-ROCK Investigators. Time to Continuous Renal Replacement Therapy Initiation and 90-Day Major Adverse Events in Children and Young Adults. JAMA Netw Open 2024; 7(1):e2349871
• Daverio M, Cortina G, Jones A, et al. Continuous Kidney Replacement Therapy Practices In Pediatric Intensive Care Units Around Europe. JAMA Netw Open 2023;5(12):e2246901
• Stanski, Natalja L.; Gist, Katja M.; Hasson, Denise; Stenson, Erin K.; Seo, JangDong; Ollberding, Nicholas J.; Muff-Luett, Melissa; Cortina, Gerard; Alobaidi, Rashid; See, Emily; Kaddourah, Ahmad; Fuhrman, Dana Y.; Worldwide Exploration Renal Replacement Outcomes Collaborative Kidney: Characteristics and Outcomes of Children and Young Adults With Sepsis Requiring Continuous Renal Replacement Therapy: A Comparative Analysis From the Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK).
  CRITICAL CARE MEDICINE. 2024; 52(11); 1686-1699.
  PubMed: 39258974doi: 10.1097/CCM.0000000000006405
• Cortina, Gerard; Daverio, Marco; Demirkol, Demet; Chanchlani, Rahul; Deep, Akash: Continuous renal replacement therapy in neonates and children: what does the pediatrician need to know? An overview from the Critical Care Nephrology Section of the European Society of Paediatric and Neonatal Intensive Care (ESPNIC).
• Eur J Pediatr.  2024; 183(2); 529-541.
  PubMed: 37975941doi: 10.1007/s00431-023-05318-0

Pediatric Rheumatology

• Berner J, van de Wetering C, Heredia RJ, Rashkova C, Ferdinandusse S, Koster J, Weiss JG, Frohne A, Giuliani S, Waterham HR, Castanon I, Brunner J*, Boztug K*shared senior authorship (2023): Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases. J Allergy Clin Immunol 24;S0091-6749(23)00809-6
• Mastrolia MV, Matucci-Cerinic C, Ozen S, Brunner J, et al, on behalf of EUROFEVER REGISTRY and Pediatric Rheumatology International trial organization (PRINTO) (2024): Thrombotic manifestations in pediatric Behcet syndrome: A multicentre comparative study from the EUROFEVER registry. Ehlers L, Rolfes E, Lieber M, Müller D, Lainka E, Gohar F, Klaus G, Girschick H, Hörstermann J, Kümmerle-Deschner J, Brunner J, Palm-Beden K, Tenbrock K, von Wrangel L, Faßhauer M, Blank N, Trauzeddel R, von Stuckrad ASL, Higgins S, Welzel T, Lutz T, Hentgen V, Foell D, Wittkowski H, Kallinich T (2023): Treat-to-target strategies for the management of familial Mediterranean Fever in children. Pediatr Rheumatol Online J 2023;21(1):108Lohrmann, F.; Doenhardt, M.; Diffloth, N.; Jakob, A.; Hospach, A.; Schneider, DT.; Trotter, A.; Brunner, J.; Goretzki, S.; Arens, S.; Rank, M.; Mauer, R.; Armann, J.; Berner, R.; Hufnagel, M.: Severity of Pediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2 Diminished During Successive Waves of the COVID-19 Pandemic: Data from a Nationwide German Survey. JOURNAL OF PEDIATRICS. 2024; [Epub ahead of print];
  PubMed: 39603520doi: 10.1016/j.jpeds.2024.114419
• Vyzhga, Y.; Wittkowski, H.; Hentgen, V.; Georgin-Lavialle, S.; Theodoropoulou, A.; Fuehner, S.; Jesenak, M.; Frenkel, J.; Papadopoulou-Alataki, E.; Anton, Jordi; Olivieri, A. Nunzia; Brunner, J.; Sanchez, J.; Kone-Paut, I.; Fingerhutova, S.; Pillet, P.; Meinzer, U.; Khubchandani, R.; Jansson, A.; Haas, J. -P.; Berendes, R.; Kallinich, T.; Horneff, G.; Lilienthal, E.; Papa, R.; Foell, D.; Lainka, E.; Caorsi, R.; Gattorno, M.; Hofer, M.; AID-Net JIRcohortEurofever PRINTO.: Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation.
  PEDIATRIC RHEUMATOLOGY. 2024; 22(1); 55.
  PubMed: 38760816doi: 10.1186/s12969-024-00987-z

Inherited Metabolic Disorders

• Knopfli, Stella; Goeschl, Bernadette; Zeyda, Maximilian; Baghdasaryan, Anna; Baumgartner-Kaut, Margot; Baumgartner, Matthias R.; Herle, Marion; Margreitter, Julian; Poms, Martin; Wortmann, Saskia B.; Konstantopoulou, Vassiliki; Huemer, Martina: The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
  INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2024; 10(2); 40.
  PubMed: 38920847 doi: 10.3390/ijns10020040
• Michel M, Renaud D, Schmidt R, Einkemmer M, Valesca Laser L, Michel E, Dubowy KO, Karall D, Laser KT, Scholl-Bürgi S. Altered serum proteins suggest inflammation, fibrogenesis and angiogenesis in adult patients with a Fontan circulation. IJMS-2949553.  Int J Mol Sci 2024, 25, 5416
• Mütze, U.; Gleich, F.; Baric, I.; Baumgartner, M.; Burlina, A.; Chapman, KA.; Chien, YH.; Cortès-Saladelafont, E.; De Laet, C.; Dobbelaere, D.; Eysken, F.; Gautschi, M.; Santer, R.; Häberle, J.; Joaquín, C.; Karall, D.; Lindner, M.; Lund, AM.; Mühlhausen, C.; Murphy, E.; Roland, D.; Ruiz Gomez, A.; Skouma, A.; Grünert, SC.; Wagenmakers, M.; Garbade, SF.; Kölker, S.; Boy, N.: Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
  JOURNAL OF INHERITED METABOLIC DISEASE. 2023; 46(2); 220-231.
  PubMed: 36266255 doi: 10.1002/jimd.12572
• Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley G, Landau YE, Mutairi FA, Stepien KM, Kwok AMK, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM,  Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Zschocke J, Oberhuber R, Schneeberger S, Müller T, Karall D. Impact of citrulline substitution on clinical outcome after liver transplantation in Carbamoyl Phosphate Synthetase 1 (CPS1) and Ornithine Transcarbamylase (OTC) deficiency. J Inher Metab Dis 2023
• West E, Merle NS, Kamiński MM, Palacios G, Kumar D, Wang L, Bibby J, Overdahl K, Jarmusch AK, Freeley S, Lee DY, Thompson JW, Yu ZX, Taylor N, Sitbon M, Green DR, Bohrer A, Mayer-Barber K, Afzali B, Kazemian M, Scholl-Buergi S, Karall D, Huemer M, Kemper C. Loss of CD4+ T cell-intrinsic arginase 1accelerates Th1 response kinetics and reduces lung pathology during influenza infection. Immunity 2023; 56:1–18

• Jubiläumsfonds der Österreichischen Nationalbank, grant no. 16678 (to Andreas Janecke)
• Jubiläumsfonds der Österreichischen Nationalbank grant no. 18019 (to Georg Vogel)
• FWF grant no. 35805-B (to Georg Vogel)
• FWF – CBD SUB4 (to Thomas Müller)
• Kinderkrebshilfe für Tirol und Vorarlberg (to Thomas Müller)
• Kinderkrebshilfe für Tirol und Vorarlberg (to Roman Crazzolara)
• Österreichische Kinderkrebshilfe (to Roman Crazzolara)
• Horizon 2020 European Union Funding for Research & Innovation, project number 731560 (to Sabine Hofer)
• Land Tirol – Amt der Tiroler Landesregierung, grant no. F.30916/15-2021 (to Roman Crazzolara)
• MUI-DK CONNECT PhD program SUB5 & SUB 6 (to Judith Hagenbuchner & Michael Ausserlechner)
• Provita Leukemia Foundation (to Michael Ausserlechner)
• FFG/EFRE Infrastructure grant 2Photon Polymerization Nanoprinting Core Facility (to Judith Hagenbuchner & Michael Ausserlechner)
• FWF -FG 15-B Sub02 (to Judith Hagenbuchner)

• Prof. James R. Goldenring, MD, PhD, Section of Surgical Sciences, Vanderbilt University School of Medicine, Nashville, USA
• Prof. Dr. Hans Clevers, Hubrecht Institute, Utrecht, The Netherlands
• Prof. Dr. Johannes Häberle, UCD (urea cycle disorders) guideline group, University Children´s Hospital Zürich, Switzerland
• Dr. Dominic Lenz, Department I, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.
• Prof. Holger Prokisch, Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.
• Prof. Prof. Betram Bengsch, Department of Medicine II (Gastroenterology, Hepatology, Endocrinology and Infectious Diseases, Freiburg University Medical Center), Faculty of Medicine, University of Freiburg, Freiburg, Germany.
• Prof. Dr. Tomas Obsil, Biophysical Chemistry, Charles University Prague, Prague, Czech Republic
• Prof. Dr. Jens Kurreck, Institut für Biotechnologie, TU-Berlin, Berlin, Germany
• Prof. Dr. Jack Rohrer, Zellphysiologie & Zellengineering, Züricher Hochschule für Angewandte Wissenschaften (ZHAW), Wädenswil, Schweiz
• Prof. Dr. Victoria Sarafian, University of Plovdiv, Plovdiv, Bulgaria
• Dr. Susanne Benseler, Childhood Arthritis and Rheumatology Research Alliance (CARRA), Pediatric Rheumatology European Society: BRAIN WORKS; Toronto, Canada
• Prof. James R. Goldenring, MD, PhD, Section of Surgical Sciences, Vanderbilt University School of Medicine, Nashville, USA
• Prof. Dr. Hans Clevers, Hubrecht Institute, Utrecht, The Netherlands
• Prof. Dr. Johannes Häberle, UCD (urea cycle disorders) guideline group, University Children´s Hospital Zürich, Switzerland
• Prof. Dr. Ron Wevers, Dr. Dirk J. Lefeber, University Children´s Hospital Nijmegen, The Netherlands
• Prof. Dr. Tanuja Chitnis, Department of Pediatric Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
• Prof. Dr. Romana Höftberger, Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria
• Prof. Dr. Dirk Foell, Münster, Klinik für Pädiatrische Rheumatologie und Immunologie, Münster, Germany
• Prof. Dr. Maria Craig, Paediatric Endocrinologist, St George Hospital and The Children’s Hospital at Westmead, Australasian Diabetes Data Network (ADDN), UNSW Medicine & Health, Discipline of Paediatrics & Child Health, St George & Sutherland Clinical Campuses, UNSW SYDNEY, Australien

• Dr. David Maahs, Lucile Salter Packard Professor of Pediatrics and Professor by Courtesy of Epidemiology and Population Health, Stanford Medicine Children´s Health, San Francisco, USA
• Dr. Andishe Attarbaschi, St. Anna Kinderspital, Vienna, Austria
• Dr. Johannes Gojo, Medical University Vienna, Austria
• Dr.Martin Benesch, Medical University Graz, Austria
• OA Dr. Neil Jones, PMU, Salzburg, Austria
• OÄ Dr. Barbara Winkler, JKU, Linz, Austria
• Prof. Dr.Roelie Von-Asperen, Princes Maxima, Utrecht, Niederlande
• Dr. Bernhard Holzner, Medical University Innsbruck, Austria
• PD Mag. David Riedl, Medical University Innsbruck, Austria
• Prof. Dr. Katja Gist, Cincinnati Childrens Hospital, USA (Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Diseases: WE-ROCK Multicenter study)
• Prof. Dr. Jack Rohrer, Zellphysiologie, ZHAW, Switzerland