International CDKL5 Clinical Research Network
Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder
This study is trying to find better ways to measure how CDKL5 deficiency disorder affects people so that future treatments can be tested more effectively.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 1 Month to 100 Years |
| Sex | All |
| Sponsor | University of Colorado, Denver Academic / other |
| Locations | 9 sites (Los Angeles, California and 8 other locations) |
| Trial ID | NCT05558371 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The research aims to develop and validate clinical outcome measures and biomarkers that will facilitate clinical trial readiness for potential disease-modifying therapies. By leveraging a network of experts and existing data, the study seeks to refine these measures specifically for CDD, which is distinct from Rett syndrome. The ultimate goal is to ensure that future therapies can be effectively assessed for their efficacy in treating CDD.
Who should consider this trial
Good fit: Ideal candidates for this study are children diagnosed with CDKL5 deficiency disorder, aged 1 month to 100 years.
Not a fit: Patients who do not meet the inclusion criteria for CDD or are not receiving care at participating institutions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to the development of validated outcome measures that enhance the effectiveness of future therapies for CDD.
How similar studies have performed: While there are ongoing clinical trials for CDD, this study's approach to developing specific outcome measures is novel and has not been extensively tested in similar contexts.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * All children diagnosed with CDD age 1-month to 100 years of age that are receiving care at one of the study institutions or are registered with the International CDKL5 Disorder Database will be considered for the study population. Exclusion Criteria: * Individuals who do not meet study inclusion criteria.
Where this trial is running
Los Angeles, California and 8 other locations
- University of California Los Angeles/UCLA Mattel Children's Hospital — Los Angeles, California, United States (Recruiting)
- University of Colorado Denver/Children's Hospital Colorado — Aurora, Colorado, United States (Recruiting)
- Harvard Medical School/Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- Washington University in St. Louis/St. Louis Children's Hospital — St Louis, Missouri, United States (Recruiting)
- NYU Langone Health — New York, New York, United States (Recruiting)
- Cleveland Clinic Foundation — Cleveland, Ohio, United States (Recruiting)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
- Baylor College of Medicine/ Texas Children's Hospital — Houston, Texas, United States (Recruiting)
- Telethon Kids Institute/Perth Children's Hospital — Perth, Nedlands Western Australia, Australia (Recruiting)
Study contacts
- Principal investigator: Timothy A Benke, MD PhD — University of Colorado, Denver
- Study coordinator: Sharon R Pincus, MA
- Email: sharon.pincus@cuanschutz.edu
- Phone: 303-949-7116
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.