Project start date: 14-Jan-2025 Project end date: 13-Jan-2027
Research Database for CDKL5 Deficiency Disorder UK
Case Definitions:
Patients with a confirmed diagnosis of CDKL5 Deficiency Disorder, both living and deceased.
Age range for cases: All ages
Investigators and Contact Details:
Address:
Principle investigator:
Name: Sam Amin
Email: Sam.Amin@uhbw.nhs.uk
Job title: Consultant Paediatric Neurologist
Affiliation: National Lead Rare Disease Collaborative Network - CDKL5
Address:
National Lead Rare Disease Collaborative Network - CDKL5
Level 6, Education Centre, Upper Maudlin Street
Bristol
BS2 8AE
Research coordinator:
Name: Emma Claydon
Email: emma.claydon@uhbw.nhs.uk
Job title: CDKL5 Research and Care Coordinator
Affiliation: University Hospital Bristol and Weston
Address:
National Lead Rare Disease Collaborative Network - CDKL5
University Hospital Bristol NHS Foundation Trust
Level 6, Education Centre, Upper Maudlin Street
Bristol
BS2 8AE
Other investigator:
Name: Liam Craddock
Email: liam.craddock4@nhs.net
Job title: Paediatrics ST1 Doctor
Affiliation: Royal Cornwall Hospitals NHS Trust
Inclusion Criteria:
To have a molecular confirmation of a pathogenic or likely CDKL5 variant.
OR Children with early onset (seizure onset <1 year), difficult to control seizures (failed two or more anti-epileptic medications at therapeutic doses) with neurodevelopmental impairment with a de novo variant of unknown significance in the kinase domain of CDKL5.
Exclusion Criteria:
Patients that do not meet the inclusion criteria. Parent or carers who do not give consent for the participant to take part in the study.
Additional Information:
Expected numbers (per year): 60-80 patients
Source of denominator data: CDKL5 UK charity
Outcomes:
Study methodology:
The study would be a prospective collection of patients diagnosed with CDD. Patients will be identified by their clinicians. It is not anticipated that any of the participants will have the cognitive ability to consent. Therefore the study team will then contact the legal guardian/carer of eligible participants to gain their consent for the study. Should they consent, they will then be sent a secure online survey via the secure REDCap system. Patients will have three different ways to complete the data collection survey. They can either fill it out themselves, the research team can fill it out on their behalf, or the patients clinician can fill it out on their behalf.
The main outcome of the study is to understand the amount of patients with CDD in the UK and understand their clinical characteristics, outcomes and mortality. This will provide clinicians with evidence and information on a rare and poorly understood condition which can then inform and prepare for future clinical trials. The study will also seek permission from participants to create a ‘consent to contact’ database to support future therapies, treatments and trial readiness.
Furthermore, the database will be used to collect information about mortality in patients with CDD through a mortality study arm.