International Registry of Congenital Portosystemic Shunt (IRCPSS)

NCT06041906 | Enrolling By Invitation

• 1 other identifier: 2018-00413
• Study Type: observational
• Target: 500
• Locations: 16 countries
• Sites: 26

Brief Summary

Congenital Portosystemic Shunt (CPSS) is a rare condition important by the multiplicity and severity of associated complications. CPSS is venous anomaly in which blood coming from the intestines only partially passes through the liver. This leads to the accumulation of potentially toxic factors that cause systemic effects. Complications vary among the individuals, and currently, it is challenging to predict which individuals will develop severe complications. The IRCPSS registry is established with the aim of centralizing detailed clinical follow-up and biological information from participants around the world who suffer from Congenital Portosystemic Shunt (CPSS). A multidisciplinary consortium of experts is collaborating to enhance our understanding of the prevalence, natural history, individual risks, and physiopathology of the disease through the IRCPSS registry.

Conditions

Congenital Portosystemic Shunt; CPSS (Congenital Portosystemic Shunt)

Keywords

shunt; portosystemic; portasystemic; porto-systemic; porta-systemic; registry; liver; rare disease; Abernethy malformation; vascular malformation; Hypertension, Pulmonary; Hepatopulmonary Syndrome; Liver Neoplasms; hyperinsulinemic; hypoglycemia; hyperinsulinism; Insulin resistance; hyperandrogenism; Hepatic Encephalopathy; Hyperammonemia

Outcome Measures

Primary Outcomes (3)

• Numbers of patients with spontaneous shunt closure

  3; 6; 12; 24 months

• Number of patients developing one or more complications

  5; 10; 20 years

• Number of patients undergoing preemptive closure

  6; 12; 24 months

Study Arms (1)

Neonate, Children, Adult with CPSS

Procedure: Shunt Closure

Interventions

Shunt Closure PROCEDURE

Consist in spontaneous, surgical or interventional closure of the shunt. Depending on context, surgical intervention may also be transplantation.

Neonate, Children, Adult with CPSS

Eligibility Criteria

• Age: 1 Day+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

neonates; children; adults

You may qualify if:

• Individual with CPSS

You may not qualify if:

• Secondary shunt without evidence of congenital shunt

Sponsors & Collaborators

• Prof. Valérie Mc Lin: lead
• European Society of Pediatric Gastroenterology, Hepatology and Nutrition: collaborator
• European Association for the Study of the Liver (EASL): collaborator
• Fondation Andrea Ferrari: collaborator

Study Sites (26)

Yale University School of Medicine

New Haven, Connecticut, 06520, United States

Location

Lurie Children's Hospital

Chicago, Illinois, 60611, United States

Location

Royal Children's Hospital Melbourne

Parkville, Victoria, 3052, Australia

Location

Universitary Clinics Saint-Luc, UCL

Brussels, 1200, Belgium

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

Beaujon University Hospital

Clichy, 92100, France

Location

Hôpital Bicêtre-Hôpitaux Universitaires Paris-Sud- Assistance Publique Hôpitaux de Paris.

Le Kremlin-Bicêtre, 94275, France

Location

Hôpital Necker

Paris, 75743, France

Location

Hannover Medical School

Hanover, 30625, Germany

Location

Haunersche Kinderklinik - LMU Munich

Munich, 80337, Germany

Location

University of Tuebingen

Tübingen, 72076, Germany

Location

First Department of Pediatrics, Semmelweis University

Budapest, 1083, Hungary

Location

Amrita institute of Medical Sciences

Kochi, Kerala, 682041, India

Location

Department of Pediatric Hepatology Institute of Liver and Biliary Sciences

New Delhi, 110070, India

Location

Schneider Children's Medical Center of Israel

Petach Tikvah, 49202, Israel

Location

Papa Giovanni XXIII Hospital

Bergamo, 24127, Italy

Location

Children's Hospital Santobono

Naples, 80129, Italy

Location

Istituto di Ricovero e Cura a Carattere Scientifico (ISMETT)

Palermo, 90127, Italy

Location

National Center for Child Health and Development

Tokyo, 157-8535, Japan

Location

Academic Medical Centre

Amsterdam, 1105, Netherlands

Location

University Medical Center Groningen

Groningen, 9700 RB, Netherlands

Location

Hospital Clínic de Barcelona

Barcelona, 08036, Spain

Location

Hôpitaux Universitaires de Geneve (HUG)

Geneva, Canton of Geneva, 1205, Switzerland

Location

Gazi University, Faculty of Medicine

Yenimahalle, Ankara, 06560, Turkey (Türkiye)

Location

Birmingham Children's Hospital

Birmingham, B4 6NH, United Kingdom

Location

Royal Hospital for Children and Young People

Edinburgh, EH16 4TJ, United Kingdom

Location

Related Publications (11)

• Hanquinet S, Morice C, Courvoisier DS, Cousin V, Anooshiravani M, Merlini L, McLin VA. Globus pallidus MR signal abnormalities in children with chronic liver disease and/or porto-systemic shunting. Eur Radiol. 2017 Oct;27(10):4064-4071. doi: 10.1007/s00330-017-4808-x. Epub 2017 Apr 6.

  PMID: 28386718 BACKGROUND

• Cudalbu C, McLin VA, Lei H, Duarte JM, Rougemont AL, Oldani G, Terraz S, Toso C, Gruetter R. The C57BL/6J mouse exhibits sporadic congenital portosystemic shunts. PLoS One. 2013 Jul 23;8(7):e69782. doi: 10.1371/journal.pone.0069782. Print 2013.

  PMID: 23936100 BACKGROUND

• Joye R, Lador F, Aggoun Y, Farhat N, Wacker J, Wildhaber BE, Vallee JP, Hachulla AL, McLin VA, Beghetti M. Outcome of paediatric portopulmonary hypertension in the modern management era: A case report of 6 patients. J Hepatol. 2021 Mar;74(3):742-747. doi: 10.1016/j.jhep.2020.11.039. Epub 2020 Dec 1.

  PMID: 33276028 BACKGROUND

• McLin V, Beghetti M, D'Antiga L, Franchi-Abella S; International Registry of Congenital Porto-Systemic Shunts (IRCPSS). Current Quandaries in the Management of Congenital Portosystemic Shunts. Liver Transpl. 2021 Aug;27(8):1212-1213. doi: 10.1002/lt.26055. Epub 2021 Jul 20. No abstract available.

  PMID: 33749116 BACKGROUND

• Korff S, Mostaguir K, Beghetti M, D'Antiga L, Debray D, Franchi-Abella S, Gonzales E, Guerin F, Hachulla AL, Lambert V, Makrythanasis P, Roduit N, Savale L, Senat MV, Spaltenstein J, van Steenbeek F, Wildhaber BE, Zwahlen M, McLin VA. International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts. Orphanet J Rare Dis. 2022 Jul 19;17(1):284. doi: 10.1186/s13023-022-02412-8.

  PMID: 35854389 BACKGROUND

• Lambert V, Ladarre D, Fortas F, Durand P, Herve P, Gonzales E, Guerin F, Savale L, McLin VA, Ackermann O, Franchi-Abella S; International Registry of Congenital Portosystemic Shunts (IRCPSS). Cardiovascular disorders in patients with congenital portosystemic shunts: 23 years of experience in a tertiary referral centre. Arch Cardiovasc Dis. 2021 Mar;114(3):221-231. doi: 10.1016/j.acvd.2020.10.003. Epub 2020 Dec 3.

  PMID: 33281106 BACKGROUND

• McLin VA, D'Antiga L. The current pediatric perspective on type B and C hepatic encephalopathy. Anal Biochem. 2022 Apr 15;643:114576. doi: 10.1016/j.ab.2022.114576. Epub 2022 Jan 29.

  PMID: 35104444 BACKGROUND

• McLin VA, Franchi Abella S, Debray D, Guerin F, Beghetti M, Savale L, Wildhaber BE, Gonzales E; Members of the International Registry of Congenital Porto-Systemic Shunts. Congenital Portosystemic Shunts: Current Diagnosis and Management. J Pediatr Gastroenterol Nutr. 2019 May;68(5):615-622. doi: 10.1097/MPG.0000000000002263.

  PMID: 30628988 BACKGROUND

• Bahadori A, Kuhlmann B, Debray D, Franchi-Abella S, Wacker J, Beghetti M, Wildhaber BE, McLin VA, On Behalf Of The Ircpss. Presentation of Congenital Portosystemic Shunts in Children. Children (Basel). 2022 Feb 11;9(2):243. doi: 10.3390/children9020243.

  PMID: 35204963 BACKGROUND

• Guerin F, Franchi Abella S, McLin V, Ackermann O, Girard M, Cervoni JP, Savale L, Hernandez-Gea V, Valla D, Hillaire S, Dutheil D, Bureau C, Gonzales E, Plessier A. Congenital portosystemic shunts: Vascular liver diseases: Position papers from the francophone network for vascular liver diseases, the French Association for the Study of the Liver (AFEF), and ERN-rare liver. Clin Res Hepatol Gastroenterol. 2020 Sep;44(4):452-459. doi: 10.1016/j.clinre.2020.03.004. Epub 2020 Apr 9. No abstract available.

  PMID: 32279979 BACKGROUND

• Rock NM, Beghetti M, Tissot C, Willi JP, Bouhabib M, McLin VA, Maggio ABR. Reliable Detection of Intrapulmonary Shunts Using Contrast-Enhanced Echocardiography in Children With Portal Hypertension or Portosystemic Shunt. J Pediatr Gastroenterol Nutr. 2021 Jul 1;73(1):73-79. doi: 10.1097/MPG.0000000000003079.

  PMID: 33605662 BACKGROUND

Related Links

• International Registry of Congenital Portosystemic Shunts website, for patients and professionals

MeSH Terms

Conditions

Congenital Portosystemic Shunt; Rare Diseases; Vascular Malformations; Hypertension, Pulmonary; Hepatopulmonary Syndrome; Liver Neoplasms; Hypoglycemia; Hyperinsulinism; Insulin Resistance; Hyperandrogenism; Hepatic Encephalopathy; Hyperammonemia

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Lung Diseases; Respiratory Tract Diseases; Hypertension; Vascular Diseases; Liver Diseases; Digestive System Diseases; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; 46, XX Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Adrenogenital Syndrome; Male Urogenital Diseases; Gonadal Disorders; Endocrine System Diseases; Liver Failure; Hepatic Insufficiency; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Study Officials

• Valérie A Mc Lin, Prof. Dr. med.

  University Hospital, Geneva

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Prof. Dr. med.

Study Record Dates

• First Submitted: September 11, 2023
• First Posted: September 18, 2023
• Study Start: April 26, 2018
• Primary Completion (Estimated): October 26, 2026
• Study Completion (Estimated): December 31, 2028
• Last Updated: June 18, 2025

Record last verified: 2024-12

Locations

BE (1); CH (1); ES (1); CA (1); HU (1); IL (1); JP (1); IN (2); FR (3); AU (1); GB (2); NL (2); IT (3); TU (1); DE (3); US (2)