Providing Quality Care for People with CDKL5 Deficiency Disorder (CDD): An Expert Panel Opinion on the European Patient Journey

S. Amin; R. Møller; Á. Aledo-Serrano; A. Arzimanoglou; P. Bager; S. Jóźwiak; G. Kluger; S. López-Cabeza; R. Nabbout; C.-A. Partridge; S. Schubert-Bast; N. Specchio; R. Kälviäinen

doi:10.1055/s-0043-1777193

Neuropediatrics, Table of Contents

Neuropediatrics 2023; 54(S 01): S1-S32
DOI: 10.1055/s-0043-1777193

Epilepsie

Providing Quality Care for People with CDKL5 Deficiency Disorder (CDD): An Expert Panel Opinion on the European Patient Journey

Authors

S. Amin

¹University Hospitals Bristol, Bristol, Vereinigtes Königreich
R. Møller

²Danish Epilepsy Centre, Dianalund, Dänemark
Á. Aledo-Serrano

³Ruber Internacional Hospital, Madrid, Spanien
A. Arzimanoglou

⁴University Hospitals of Lyon, Lyon, Frankreich

⁵San Juan de Dios Children's Hospital, Barcelona, Spanien
P. Bager

⁶CDKL5 Deutschland e.V, Mainz, Deutschland
S. Jóźwiak

⁷Medical University of Warsaw, Warsaw, Polen

⁸The Children's Memorial Health Institute, Warsaw, Polen
G. Kluger

⁹Epilepsy Center for Children and Adolescents, Vogtareuth, Deutschland

¹⁰Paracelsus Medical University, Salzburg, Österreich
S. López-Cabeza

¹¹Asociación de Afectados CDKL5, Madrid, Spanien
R. Nabbout

¹²Imagine Institute, Necker-Enfants Malades Hospital, Université Paris Cité, Paris, Frankreich
C.-A. Partridge

¹³CDKL5 UK, Somerset, Vereinigtes Königreich
S. Schubert-Bast

¹⁴Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe-University and University Hospital Frankfurt, Frankfurt am Main, Deutschland

¹⁵LOEWE Center for Personalized and Translational Epilepsy Research (CePTER), Goethe-University, Frankfurt am Main, Deutschland

¹⁶University Children's Hospital, Goethe-University and University Hospital Frankfurt, Frankfurt am Main, Deutschland
N. Specchio

¹⁷Bambino Gesu' Children's Hospital, IRCCS, Rome, Italien
R. Kälviäinen

¹⁸University of Eastern Finland and Epilepsy Center, Kuopio University Hospital, Kuopio, Finland

Abstract

Full Text

Background/Purpose: CDD is a rare genetic disorder characterized by seizures and neurodevelopmental delays from early infancy. To address the current lack of evidence-based guidelines for standardized care of CDD in Europe, clinical experts in CDD management and patient advocacy group (PAG) representatives from across Europe convened to map the patient journey and provide expert consensus on how to ensure quality care in routine clinical practice within the European setting.

Methods: Semistructured one-to-one interviews with clinical experts and PAG representatives were conducted by a third-party agency to avoid bias in the consensus process. The insights gained were collated into a visual representation of the Europe-specific clinical journey in CDD. Workshops followed to reach consensus and validate the journey, and to identify challenges and provide expert opinion on potential solutions or approaches for achieving Europe-wide quality care.

Results: The validated CDD patient journey has three key elements: clinical presentation/diagnosis, seizure management, and multidisciplinary care. Clinical criteria for CDD diagnosis include seizure semiology and age at epilepsy onset. Genetic testing is crucial for diagnosis, especially if symptoms are atypical, allowing appropriate planning/counseling around seizure management, multidisciplinary care, and outcomes. With no approved antiseizure medication for CDD in Europe, the refractory and variable seizure semiology, comorbidities, effects of polypharmacy, and safety profiles of concomitant medications should be considered in seizure management. Multidisciplinary collaboration and specialist access are essential for long-term care, support, and improved quality of life, with care needs changing with the patients’ age and comorbidities.

Conclusion: To achieve quality care of people with CDD, European practice recommendations are required that align on realistic treatment goals, diagnostic criteria, and management approaches, which can be adapted for different settings.