Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

Published in JMIR Formative Research (2025)
Collaborator: Orion Corporation
Authors: Sam Amin, Carol-Anne Partridge, Helen Leonard, Jenny Downs, Helen Allvin, Valentine Ficara, Emilie Pain, Minna A Korolainen

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life. The aim of this study was to better understand the burden of CDD based on family caregivers’ perceptions.

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Matthieu Morillon2025-06-17T17:27:09+02:00June 17th, 2025|Featured, Publications|

About the Author: Matthieu Morillon

As the Growth Marketing Director at Carenity, Matthieu leverages his expertise to generate leads for the RWE solutions while wholeheartedly supporting the growth of Carenity patient communities. With a wealth of diverse experiences and an innate drive for innovation, his insights naturally lend themselves to understanding and articulating the essential role of clinical trials in advancing medical research.

Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

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About the Author: Matthieu Morillon