Literature DB >> 27403298

Creating an effective clinical registry for rare diseases.

Hedwig Ma D'Agnolo1, Wietske Kievit2, Raul J Andrade3, Tom Hemming Karlsen4, Heiner Wedemeyer5, Joost Ph Drenth1.   

Abstract

The exposure of clinicians to patients with rare gastrointestinal diseases is limited. This hurts clinical studies, which impedes accumulation of scientific knowledge on the natural disease course, treatment outcomes and prognosis in these patients. An excellent method to detect patterns on an aggregate level that would not be possible to discover in individual cases, is a registry study. This paper aims to describe a template to create a successful international registry for rare diseases. We focus mainly on rare hepatic diseases, but lessons from this paper serve other fields in medicine, as well.

Entities:  

Keywords:  Clinical registry; database; gastrointestinal disease; liver disease; liver transplantation; practical guide; rare diseases; rare liver disorders; registry design

Year:  2015        PMID： 27403298      PMCID： PMC4924439          DOI： 10.1177/2050640615618042

Source DB:  PubMed          Journal:  United European Gastroenterol J        ISSN： 2050-6406            Impact factor:   4.623


  28 in total

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Journal:  Public Health Rep       Date:  1991 Mar-Apr       Impact factor: 2.792

2.  Stratification of hepatocellular carcinoma risk in primary biliary cirrhosis: a multicentre international study.

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Journal:  Gut       Date:  2015-01-07       Impact factor: 23.059

3.  Interferon-free therapy for genotype 1 hepatitis C in liver transplant recipients: Real-world experience from the hepatitis C therapeutic registry and research network.

Authors:  Robert S Brown; Jacqueline G O'Leary; K Rajender Reddy; Alexander Kuo; Giuseppe J Morelli; James R Burton; R Todd Stravitz; Christine Durand; Adrian M Di Bisceglie; Paul Kwo; Catherine T Frenette; Thomas G Stewart; David R Nelson; Michael W Fried; Norah A Terrault
Journal:  Liver Transpl       Date:  2016-01       Impact factor: 5.799

Review 4.  Assessing patient reported outcome measures: A practical guide for gastroenterologists.

Authors:  Laith Alrubaiy; Hayley A Hutchings; John G Williams
Journal:  United European Gastroenterol J       Date:  2014-12       Impact factor: 4.623

Review 5.  Systematic review: the pathophysiology and management of polycystic liver disease.

Authors:  F Temmerman; L Missiaen; B Bammens; W Laleman; D Cassiman; C Verslype; J van Pelt; F Nevens
Journal:  Aliment Pharmacol Ther       Date:  2011-07-26       Impact factor: 8.171

6.  Optimising risk stratification in primary biliary cirrhosis: AST/platelet ratio index predicts outcome independent of ursodeoxycholic acid response.

Authors:  Palak J Trivedi; Tony Bruns; Angela Cheung; Ka-Kit Li; Clemens Kittler; Teru Kumagi; Husnain Shah; Christopher Corbett; Nadya Al-Harthy; Unsal Acarsu; Catalina Coltescu; Dhiraj Tripathi; Andreas Stallmach; James Neuberger; Harry L A Janssen; Gideon M Hirschfield
Journal:  J Hepatol       Date:  2014-02-15       Impact factor: 25.083

7.  Patient reported outcome measures could help transform healthcare.

Authors:  Nick Black
Journal:  BMJ       Date:  2013-01-28

8.  Population-based epidemiology, malignancy risk, and outcome of primary sclerosing cholangitis.

Authors:  Kirsten Boonstra; Rinse K Weersma; Karel J van Erpecum; Erik A Rauws; B W Marcel Spanier; Alexander C Poen; Karin M van Nieuwkerk; Joost P Drenth; Ben J Witteman; Hans A Tuynman; Anton H Naber; Paul J Kingma; Henk R van Buuren; Bart van Hoek; Frank P Vleggaar; Nan van Geloven; Ulrich Beuers; Cyriel Y Ponsioen
Journal:  Hepatology       Date:  2013-10-17       Impact factor: 17.425

9.  Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort.

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Journal:  Clin J Am Soc Nephrol       Date:  2005-10-26       Impact factor: 8.237

10.  Impact of primary biliary cirrhosis on perceived quality of life: the UK-PBC national study.

Authors:  George F Mells; Greta Pells; Julia L Newton; Andrew J Bathgate; Andrew K Burroughs; Michael A Heneghan; James M Neuberger; Darren B Day; Samantha J Ducker; Richard N Sandford; Graeme J Alexander; David E J Jones
Journal:  Hepatology       Date:  2013-07       Impact factor: 17.425
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  15 in total

Review 1.  National information system for rare diseases with an approach to data architecture: A systematic review.

Authors:  Simin Derayeh; Alireza Kazemi; Reza Rabiei; Azamossadat Hosseini; Hamid Moghaddasi
Journal:  Intractable Rare Dis Res       Date:  2018-08

Review 2.  Imaging of fibropolycystic liver disease.

Authors:  Kedar Sharbidre; Mohd Zahid; Sudhakar Kundapur Venkatesh; Chandra Bhati; Neeraj Lalwani
Journal:  Abdom Radiol (NY)       Date:  2022-06-07

Review 3.  Defining and characterising a toolkit for the development of a successful European registry for rare liver diseases: a model for building a rare disease registry.

Authors:  Marinos Pericleous; Claire Kelly; Michael Schilsky; Anil Dhawan; Aftab Ala
Journal:  Clin Med (Lond)       Date:  2022-06-15       Impact factor: 5.410

4.  Lessons learned from hemolytic uremic syndrome registries: recommendations for implementation.

Authors:  Mina Lazem; Abbas Sheikhtaheri; Nakysa Hooman
Journal:  Orphanet J Rare Dis       Date:  2021-05-25       Impact factor: 4.123

5.  Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER.

Authors:  Lucas H P Bernts; David E J Jones; Marleen M Kaatee; Ansgar W Lohse; Christoph Schramm; Ekkehard Sturm; Joost P H Drenth
Journal:  Orphanet J Rare Dis       Date:  2019-07-08       Impact factor: 4.123

6.  Estrogen-Containing Oral Contraceptives Are Associated With Polycystic Liver Disease Severity in Premenopausal Patients.

Authors:  René M M van Aerts; Lucas H P Bernts; Tom J G Gevers; Wietske Kievit; Lisanne Koopmans; Theodoor E Nieboer; Frederik Nevens; Joost P H Drenth
Journal:  Clin Pharmacol Ther       Date:  2019-07-23       Impact factor: 6.875

7.  Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.

Authors:  Rosario Sánchez-Martínez; Adriana Iriarte; José María Mora-Luján; José Luis Patier; Daniel López-Wolf; Ana Ojeda; Miguel Angel Torralba; María Coloma Juyol; Ricardo Gil; Sol Añón; Joel Salazar-Mendiguchía; Antoni Riera-Mestre
Journal:  Orphanet J Rare Dis       Date:  2020-06-05       Impact factor: 4.123

8.  Predictors for incomplete response to ursodeoxycholic acid in primary biliary cholangitis. Data from a national registry of liver disease.

Authors:  Helena Cortez-Pinto; Rodrigo Liberal; Susana Lopes; Mariana V Machado; Joana Carvalho; Teresa Dias; Arsénio Santos; Cláudia Agostinho; Pedro Figueiredo; Rafaela Loureiro; Alexandra Martins; Gonçalo Alexandrino; Isabel Cotrim; Carina Leal; José Presa; Mónica Mesquita; Joana Nunes; Catarina Gouveia; Ana Horta E Vale; Ana Luísa Alves; Mariana Coelho; Luís Maia; Isabel Pedroto; António Banhudo; João Sebastião Pinto; Marta Vargas Gomes; Joana Oliveira; Valeska Andreozzi; Filipe Calinas
Journal:  United European Gastroenterol J       Date:  2021-06-08       Impact factor: 4.623

Review 9.  Establishing Patient Registries for Rare Diseases: Rationale and Challenges.

Authors:  Vanessa Boulanger; Marissa Schlemmer; Suzanne Rossov; Allison Seebald; Pamela Gavin
Journal:  Pharmaceut Med       Date:  2020-06

10.  Drug holiday in patients with polycystic liver disease treated with somatostatin analogues.

Authors:  René M M van Aerts; Marieke Kolkman; Wietske Kievit; Tom J G Gevers; Frederik Nevens; Joost P H Drenth
Journal:  Therap Adv Gastroenterol       Date:  2018-10-03       Impact factor: 4.409
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