Resource Type

Article

Year

2022

Disorder / CDG Type

All CDGs

Abstract

Background: Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which
therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous
eforts of the CDG medical/scientifc and patient communities. Hence, CDG drug development is a popular research
topic. The main aim of this study was to understand current and steer future CDG drug development and approval by
collecting and analysing the views and experiences of the CDG community, encompassing professionals and families.
An electronic (e-)survey was developed and distributed to achieve this goal.

Authors

Maria Monticelli
Rita Francisco
Sandra Brasil
Dorinda Marques-da-Silva
Tatiana Rijof
Carlota Pascoal
Prof. Jaak Jaeken
Paula A. Videira
Vanessa Dos Reis Ferreira

Keywords

CDG
Congenital Disorders of Glycosylation
Drug development
People-centricity
Electronic survey
Patient-reported outcome measures

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