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

NCT05373719 | Active Not Recruiting

• 1 other identifier: LLF001
• Study Type: observational
• Target: 112
• Locations: 7 countries
• Sites: 23

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.

Conditions

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

Keywords

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder; CDKL5; CDD

Outcome Measures

Primary Outcomes (4)

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

  Suitability of this cognition and global development scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.

  Baseline

• Vineland 3

  Suitability of this adaptive behavior scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.

  Baseline

• Gross Motor Function Measure (GMFM)

  Suitability of this motor function scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.

  Baseline

• Sleep Disturbance Scale for Children (SDSC)

  Suitability of this sleep quality scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.

  Baseline

Secondary Outcomes (4)

• Changes in test results over time.

  36 months

• Correlations between age and test results.

  36 months

• Correlations between gender and test results.

  36 months

• Correlation between test results and seizure severity.

  36 months

Study Arms (4)

0-2 Years of Age

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

Other: No intervention; observational

3-5 Years of Age

Patients aged 3 to 5 years at time of study entry

Other: No intervention; observational

6-12 Years of Age

Patients aged 6 to 12 years at time of study entry

Other: No intervention; observational

13-55 Years of Age

Patients aged 13 to 55 years at time of study entry

Other: No intervention; observational

Interventions

No intervention; observational OTHER

No intervention; observational

0-2 Years of Age; 13-55 Years of Age; 3-5 Years of Age; 6-12 Years of Age

Eligibility Criteria

• Age: Up to 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Loulou Foundation: lead

Study Sites (23)

UCLA Mattel Children's Hospital

Los Angeles, California, 90095, United States

Location

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Center for Rare Neurological Diseases

Norcross, Georgia, 30093, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

New York University

New York, New York, 10016, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

The Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Childrens Hospital of Philadlephia Division of Neurology

Philadelphia, Pennsylvania, 19104, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology

Calgary, T3B 6A8, Canada

Location

The Hospital of Sick Children

Toronto, Canada

Location

Hopital Necker- Enfants Malades

Paris, 75015, France

Location

DRK Berlin - Epilepsiezentrum und Neuropädiatrie

Berlin, 14050, Germany

Location

Schön Klinik Vogtareuth

Vogtareuth, 83569, Germany

Location

Azienda Ospedaliero-Universitaria Meyer

Florence, 50139, Italy

Location

Fondazione Policlinico Universitario A Gemelli, IRCCS

Roma, 00168, Italy

Location

Ospedale Pediatrico Bambino Gesù

Rome, Italy

Location

Azienda Ospedaliera Universitaria Integrata di Verona

Verona, 37126, Italy

Location

Hospital Infantil Universitario Niño Jesús

Madrid, 28009, Spain

Location

Ruber Internacional Hospital

Madrid, 28034, Spain

Location

Hospital UniversitarioVithas Madrid

Madrid, Spain

Location

Ruber Internacional Hospital

Madrid, Spain

Location

Mediclinic

Dubai, United Arab Emirates

Location

MeSH Terms

Conditions

Epilepsies, Myoclonic

Condition Hierarchy (Ancestors)

Epilepsy, Generalized; Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 6, 2022
• First Posted: May 13, 2022
• Study Start: September 30, 2022
• Primary Completion (Estimated): January 20, 2027
• Study Completion (Estimated): January 20, 2027
• Last Updated: March 10, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will share

Locations

AE (1); US (9); IT (4); CA (2); ES (4); FR (1); DE (2)