International CDKL5 Clinical Research Network
Official title: Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder
Run by University of Colorado, Denver · NCT05558371 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 1 Month to 100 Years |
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | University of Colorado, Denver Academic / other |
| Locations | 9 sites (Los Angeles, California and 8 other locations) |
| Status | Recruiting |
| Started | February 15, 2021 |
| Main results expected | February 15, 2026 |
| Study ends | February 15, 2027 |
| Registry record updated | December 6, 2023 |
| Trial ID | NCT05558371 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are children diagnosed with CDKL5 deficiency disorder, aged 1 month to 100 years.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
Show 3 more locations
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Orientation Intervention to Rapid Response Teams (ORIENT-RRT) for New Graduate Nurses
The study tests a 12-hour orientation program with a rapid response nurse to see if it improves knowledge, confidence, and nursing practices for new graduate nurses on acute care units.
-
Supplemental Mobility for older adults in skilled nursing facilities
This pilot tests whether adding a mobility aide to support walking and transfers alongside regular rehab helps older adults in SNFs after hospitalization see more daily activity and safer mobility.
-
AI check for retained objects on intraoperative X-rays
A real-world test to see if an AI system can detect retained surgical items on intraoperative X-rays without changing patient care.
-
Cyclic vs. Constant Estradiol for Brain Health in Menopause
This study tests whether cyclic or continuous estradiol patches improve brain health and wellbeing in healthy postmenopausal adults.
-
Sleep and adaptive DBS in Parkinson’s disease
This study tests whether adjusting adaptive deep brain stimulation during sleep can improve sleep quality and brain activity in people with Parkinson’s disease who already have DBS.
-
Mindful PaCT: a couple-based mindfulness program for metastatic colorectal cancer
A couple-focused mindfulness program delivered by video to see if it is practical, acceptable, and helpful for patients with metastatic colorectal cancer and their partners.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.