RecruitingNCT05558371

International CDKL5 Clinical Research Network

Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder

Sponsor

University of Colorado, Denver

Enrollment

1,000 participants

Start Date

Feb 15, 2021

Study Type

OBSERVATIONAL

Summary

Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments and cortical visual impairment. While capability for disease modifying therapies is accelerating, there is a critical barrier for clinical trial readiness that may result in failure of these therapies, not due to lack of efficacy but due to lack of validated outcome measures and biomarkers. The measures and biomarkers validated here will be adaptable to other developmental and epileptic encephalopathies.

Eligibility

Min Age: 1 MonthMax Age: 100 Years

Plain Language Summary

Simplified for easier understanding

This study is building an international research network for CDKL5 Deficiency Disorder (CDD), a rare genetic condition that causes severe epilepsy and developmental delays in children. The network collects long-term data on how the condition progresses and how patients respond to treatments, with the goal of improving care and finding better therapies. You may be eligible if... - You or your child has been diagnosed with CDKL5 Deficiency Disorder (CDD) - Age ranges from 1 month to 100 years - You are receiving care at one of the participating institutions, or are registered with the International CDKL5 Disorder Database You may NOT be eligible if... - You do not meet the inclusion criteria above Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERNo intervention.

No intervention administered as part of this study; observational only.

Locations(9)

University of California Los Angeles/UCLA Mattel Children's Hospital

Los Angeles, California, United States

University of Colorado Denver/Children's Hospital Colorado

Aurora, Colorado, United States

Harvard Medical School/Boston Children's Hospital

Boston, Massachusetts, United States

Washington University in St. Louis/St. Louis Children's Hospital

St Louis, Missouri, United States

NYU Langone Health

New York, New York, United States

Cleveland Clinic Foundation

Cleveland, Ohio, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Baylor College of Medicine/ Texas Children's Hospital

Houston, Texas, United States

Telethon Kids Institute/Perth Children's Hospital

Perth, Nedlands Western Australia, Australia

View Full Details on ClinicalTrials.gov

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NCT05558371