Clinical trial NCT05373719: Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder
Official title: Endpoint Enabling Study of Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD)
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
Keywords: Cyclin-Dependent Kinase-Like 5 Deficiency Disorder
CDKL5
CDD
Lead sponsor: Loulou Foundation
Sponsor class: OTHER
First posted: 2022-05-13
Enrollment: 112
Sex: ALL
Maximum age (years): 55
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This is a multi-center study to be conducted in multiple countries. The study will enroll patients diagnosed with Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder, from birth to 55 years of age, at a participating site.

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.

Detailed description: This is an observational study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in approximately up to 100 patients aged birth to 55 years and diagnosed with cyclin-dependent kinase-like 5 deficiency disorder. Operational performance across age groups and languages will be assessed throughout the study, and Baseline cohort characteristics will be assessed throughout enrollment.

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

1. 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).
2. 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
3. Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study

Primary outcomes:
measure: Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4)
timeFrame: Baseline
measure: Vineland 3
timeFrame: Baseline
measure: Gross Motor Function Measure (GMFM)
timeFrame: Baseline
measure: Sleep Disturbance Scale for Children (SDSC)
timeFrame: Baseline
Secondary outcomes:
measure: Changes in test results over time.
timeFrame: 36 months
measure: Correlations between age and test results.
timeFrame: 36 months
measure: Correlations between gender and test results.
timeFrame: 36 months
measure: Correlation between test results and seizure severity.
timeFrame: 36 months
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: UCLA Mattel Children's Hospital
state: California
city: Aurora
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Norcross
country: United States
facility: Center for Rare Neurological Diseases
state: Georgia
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: New York
country: United States
facility: New York University
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Cleveland
country: United States
facility: The Cleveland Clinic
state: Ohio
city: Philadelphia
country: United States
facility: Childrens Hospital of Philadlephia Division of Neurology
state: Pennsylvania
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Calgary
country: Canada
facility: Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology
city: Toronto
country: Canada
facility: The Hospital of Sick Children
city: Paris
country: France
facility: Hopital Necker- Enfants Malades
city: Berlin
country: Germany
facility: DRK Berlin - Epilepsiezentrum und Neuropädiatrie
city: Vogtareuth
country: Germany
facility: Schön Klinik Vogtareuth
city: Florence
country: Italy
facility: Azienda Ospedaliero-Universitaria Meyer
city: Roma
country: Italy
facility: Fondazione Policlinico Universitario A Gemelli, IRCCS
city: Rome
country: Italy
facility: Ospedale Pediatrico Bambino Gesù
city: Verona
country: Italy
facility: Azienda Ospedaliera Universitaria Integrata di Verona
city: Madrid
country: Spain
facility: Hospital Infantil Universitario Niño Jesús
city: Madrid
country: Spain
facility: Ruber Internacional Hospital
city: Madrid
country: Spain
facility: Hospital UniversitarioVithas Madrid
city: Madrid
country: Spain
facility: Ruber Internacional Hospital
city: Dubai
country: United Arab Emirates
facility: Mediclinic
Study officials:
References: