International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts
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Published:2022-07-19
Issue:1
Volume:17
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
Korff SimonaORCID, Mostaguir Khaled, Beghetti Maurice, D’Antiga Lorenzo, Debray Dominique, Franchi-Abella Stéphanie, Gonzales Emmanuel, Guerin Florent, Hachulla Anne-Lise, Lambert Virginie, Makrythanasis Periklis, Roduit Nicolas, Savale Laurent, Senat Marie-Victoire, Spaltenstein Joël, van Steenbeek Frank, Wildhaber Barbara E., Zwahlen MarcelORCID, McLin Valérie A.
Abstract
Abstract
Background
Congenital portosystemic shunts (CPSS) are rare vascular malformations associated with the risk of life-threatening systemic conditions, which remain underdiagnosed and often are identified after considerable diagnostic delay. CPSS are characterized by multiple signs and symptoms, often masquerading as other conditions, progressing over time if the shunt remains patent. Which patients will benefit from shunt closure remains to be clarified, as does the timing and method of closure. In addition, the etiology and pathophysiology of CPSS are both unknowns. This rare disorder needs the strength of numbers to answer these questions, which is the purpose of the international registry of CPSS (IRCPSS).
Method
A retrospective and prospective registry was designed using secuTrial® by the ISO certified Clinical Research Unit. Given that a significant number of cases entered in the registry are retrospective, participants have the opportunity to use a semi-structured minimal or complete data set to facilitate data entry. In addition, the design allows subjects to be entered into the IRCPSS according to clinically relevant events. Emphasis is on longitudinal follow-up of signs and symptoms, which is paramount to garner clinically relevant information to eventually orient patient management. The IRCPSS includes also three specific forms to capture essential radiological, surgical, and cardiopulmonary data as many times as relevant, which are completed by the specialists themselves. Finally, connecting the clinical data registry with a safe image repository, using state-of-the-art pseudonymization software, was another major focus of development. Data quality and stewardship is ensured by a steering committee. All centers participating in the IRCPSS have signed a memorandum of understanding and obtained their own ethical approval.
Conclusion
Through state-of-the-art management of data and imaging, we have developed a practical, user-friendly, international registry to study CPSS in neonates, children, and adults. Via this multicenter and international effort, we will be ready to answer meaningful and urgent questions regarding the management of patients with CPSS, a condition often ridden with significant diagnostic delay contributing to a severe clinical course.
Funder
European Society for Pediatric Gastroenterology, Hepatology and Nutrition European Association for the Study of the Liver Ferrari Foundation Prim’Enfance Fondation
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference14 articles.
1. McLin V, Franchi-Abella S, Debray D, Korff S, Casotti V, Colledan M, et al. Congenital porto-systemic shunts in children: preliminary results from the IRCPSS. 52nd Annual Meeting ESPGHAN (European Society for Pediatric Gastroenterology, Hepatology and Nutrition) (Glasgow, Scotland, du 05/06/2019 au 08/06/2019). http://hdl.handle.net/2078.1/216438. 2. McLin V, Franchi-Abella S, Debray D, Korff S, Casotti V, Colledan M, et al. First report of the international registry of congenital porto-systemic shunts. J Pediatr Gastroenterol Nutr. 2019;68S1:678. 3. Bernard O, Franchi-Abella S, Branchereau S, Pariente D, Gauthier F, Jacqueminet E. Congenital portosystemic shunts in children: recognition, evaluation, and management. Semin Liver Dis. 2012;32(4):273–87. 4. Sokollik C, Bandsma RH, Gana JC, van den Heuvel M, Ling SC. Congenital portosystemic shunt: characterization of a multi-system disease. J Pediatr Gastroenterol Nutr. 2013;56:675–81. 5. McLin VA, Franchi Abella S, Debray D, Guérin F, Beghetti M, Savale L, on Behalf of the Members of the International Registry of Congenital Porto-Systemic Shunts, et al. Congenital portosystemic shunts: current diagnosis and management. J Pediatr Gastroenterol Nutr. 2019;68:615–22.
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