Creating an effective clinical registry for rare diseases

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.

Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry

“…For other risk factors such as age, oestrogen use and pregnancies, conflicting study results raise questions with respect to the true effect size on PLD severity. With the establishment of the International PLD Registry, we aim to collect a large population of PLD patients in order to clarify these uncertainties and answer new research questions for a better understanding of PLD …”

“…With the establishment of the International PLD Registry, we aim to collect a large population of PLD patients in order to clarify these uncertainties and answer new research questions for a better understanding of PLD. 6 Previously, only one small cohort study surveying 19 ADPLD and 34 ADPKD patients, explored differences in PLD between the two diseases. This study focused on symptoms, complications and treatment.…”

“…Better insight in phenotypical differences between ADPKD and ADPLD aid in the understanding of pathogenesis and natural course of disease and contributes to better counselling in clinical practice. As a result of the rarity of the disease and consequently lack of solid evidence, the recent establishment of an International PLD Registry provides us with the opportunity to explore clinical relevant questions in a large real‐world cohort by collecting uniform clinical data from individual patients …”

“…As a result of the rarity of the disease and consequently lack of solid evidence, the recent establishment of an International PLD Registry provides us with the opportunity to explore clinical relevant questions in a large real-world cohort by collecting uniform clinical data from individual patients. 6 The aim of this study is to compare disease severity between ADPKD and ADPLD by determining the association between diagnosis and height-adjusted total liver volume (hTLV).…”

Cuando la creación de un consorcio proporciona respuestas útiles: experiencia de la Latin American DILI network (LATINDILIN)

“…A pesar de que no existen guías ni recomendaciones estándar sobre el modo de diseñar y crear un registro, estas redes utilizan una metodología observacional para recopilar los datos de los pacientes. Esta estructura permite a las redes no solo realizar estudios epidemiológicos sino también otros tipos de estudios, como ensayos clínicos e investigaciones sobre la evolución natural y la calidad de vida.…”