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

About

Brief Summary

Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent kinase-like 5 deficiency disorder.

Study Type

Observational

Eligibility

Gender

All

Healthy Volunteers

No

Minimum Age

N/A

Maximum Age

55 Years

Inclusion Criteria:

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

Exclusion Criteria:

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

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