Active — Not RecruitingNot Applicable

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

United States112 participantsStarted 2022-09-30

Plain-language 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.

Who can participate

Age range55 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4)

Timeframe: Baseline

Vineland 3

Timeframe: Baseline

Gross Motor Function Measure (GMFM)

Timeframe: Baseline

Sleep Disturbance Scale for Children (SDSC)

Timeframe: Baseline

Trial details

NCT IDNCT05373719

SponsorLoulou Foundation

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2027-01-20

View on ClinicalTrials.gov More Cyclin-Dependent Kinase-Like 5 Deficiency Disorder trials

Who can participate

Age range55 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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