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

NCT ID: NCT05373719

Last Updated: 2025-03-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

112 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-09-30

Study Completion Date

2027-01-20

Brief Summary

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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

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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.

Conditions

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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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0-2 Years of Age

Patients from birth to 2 years of age at time of study entry

No intervention; observational

Intervention Type OTHER

No intervention; observational

3-5 Years of Age

Patients aged 3 to 5 years at time of study entry

No intervention; observational

Intervention Type OTHER

No intervention; observational

6-12 Years of Age

Patients aged 6 to 12 years at time of study entry

No intervention; observational

Intervention Type OTHER

No intervention; observational

13-55 Years of Age

Patients aged 13 to 55 years at time of study entry

No intervention; observational

Intervention Type OTHER

No intervention; observational

Interventions

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No intervention; observational

No intervention; observational

Intervention Type OTHER

Eligibility Criteria

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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
Maximum Eligible Age

55 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Loulou Foundation

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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UCLA Mattel Children's Hospital

Los Angeles, California, United States

Site Status

Children's Hospital Colorado

Aurora, Colorado, United States

Site Status

Center for Rare Neurological Diseases

Norcross, Georgia, United States

Site Status

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status

New York University

New York, New York, United States

Site Status

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status

The Cleveland Clinic

Cleveland, Ohio, United States

Site Status

Childrens Hospital of Philadlephia Division of Neurology

Philadelphia, Pennsylvania, United States

Site Status

Baylor College of Medicine

Houston, Texas, United States

Site Status

Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology

Calgary, , Canada

Site Status

The Hospital of Sick Children

Toronto, , Canada

Site Status

Hopital Necker- Enfants Malades

Paris, , France

Site Status

DRK Berlin - Epilepsiezentrum und Neuropädiatrie

Berlin, , Germany

Site Status

Schön Klinik Vogtareuth

Vogtareuth, , Germany

Site Status

Azienda Ospedaliero-Universitaria Meyer

Florence, , Italy

Site Status

Fondazione Policlinico Universitario A Gemelli, IRCCS

Roma, , Italy

Site Status

Ospedale Pediatrico Bambino Gesù

Rome, , Italy

Site Status

Azienda Ospedaliera Universitaria Integrata di Verona

Verona, , Italy

Site Status

Hospital Infantil Universitario Niño Jesús

Madrid, , Spain

Site Status

Ruber Internacional Hospital

Madrid, , Spain

Site Status

Hospital UniversitarioVithas Madrid

Madrid, , Spain

Site Status

Ruber Internacional Hospital

Madrid, , Spain

Site Status

Mediclinic

Dubai, , United Arab Emirates

Site Status

Countries

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United States Canada France Germany Italy Spain United Arab Emirates

Other Identifiers

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LLF001

Identifier Type: -

Identifier Source: org_study_id

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