CDKL5 Clinic Study
This study seeks to improve our understanding of the neurologic and non-neurologic aspects of the disorder associated with variants in the CDKL5 gene and how this disorder evolves over time. We will gather past and future medical information through medical record review, family report, physical examinations, and clinical data. We will collect information during clinic visits, gather supplemental data from your home medical team if appropriate, and request copies of MRI and EEG data if done elsewhere. Data will be collected on an ongoing basis for patients who are seen regularly in clinic, and for all enrolled subjects, we may intermittently ask for updates for individuals followed outside of Boston Children’s Hospital.
To be eligible for enrollment, your child will first need to review his or her CDKL5 genetic variant and diagnosis with the medical team. We can assist with interpretation of genetic test results in clinic. The aim is to combine the database of information collected at Boston Children’s with databases from other CDKL5 Centers for Excellence to compile as much information as possible and look for genotype-phenotype correlations (correlations between genetic findings and clinical symptoms). This study complements prospective natural history and clinical trial readiness studies for CDKL5 Deficiency Disorder.
