Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder

Más betegség

• Any clinically significant neurocognitive deficit not attributable to Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder or a secondary cause that may, in the opinion of the investigator, confound interpretation of study results (e.g., extreme prematurity, other genetic variants, unclassified CDKL5 variant, abnormal brain imaging, imaging and/or injury not otherwise attributable to CDD).
• Any condition that, in the opinion of the investigator, would put the patient at undue risk or make it unsafe for the patient to participate
• Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study

• Documented diagnosis of Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder with pathogenic or likely pathogenic of CDKL5 variants
• Ages newborn to 55 years old
• Parent/Caregiver who is willing and capable of providing written informed consent
• Parent/caregiver lives with or has daily contact with study participant and able to provide consistent information across the study