The Long Odyssey for the DEE-CDKL5 Diagnosis: A Call for Action

• Grant number: 24/16918-1
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: December 01, 2024
• End date: November 30, 2025
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Kette Dualibi Ramos Valente
• Grantee: Fernanda Melo Ferreira
• Host Institution: Instituto de Psiquiatria Doutor Antonio Carlos Pacheco e Silva (IPq). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

CDKL5 deficiency syndrome (CDD) is a rare developmental epileptic encephalopathy (DEE) of genetic origin. This syndrome is characterized by early-onset epileptic seizures that are refractory to treatment and, among the seizures, the most commonly observed are epileptic spasms, tonic-clonic seizures and tonic seizures. Other symptoms include hypotonia, global developmental delay, intellectual disability, cortical visual impairment, respiratory and gastrointestinal problems, dysphagia and dyskinesia. Although genetic testing is fundamental for diagnosis, as well as for treatment, prognosis and counseling, a Clinical Protocol and Therapeutic Guidelines for epilepsies of unknown origin has not been implemented in Brazil. Considering the importance of evaluating the aspects of EED-CDKL5 in the country in terms of its diagnosis and treatment, this study will evaluate a cohort of patients with pathogenic variants in the CDKL5 gene. The primary objective of this study is to evaluate the diagnosis and treatment of patients with EED-CDKL5 in Brazil. The secondary objective, in turn, is to delineate how demographic and clinical aspects impact the time to diagnosis and polytherapy in these patients. To this end, an online questionnaire will be administered to members of the Brazilian CDKL5 Association, caregivers of patients with EED-CDKL5. This questionnaire was developed by the CDKL5 Centers of Excellence run by the International Alliance. The results will be analyzed descriptively, with mean, median, SD, total number and percentage.