Clinical trialNCT05558371RecruitingObservational

International CDKL5 Clinical Research Network

SponsorUniversity of Colorado, DenverEnrollment1,000CDDCDKL5CDKL5 Deficiency Disorder

View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

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.

clinicaltrials.gov ↗

Investigators

The overall officials registered on this study. Names that resolve to a findmyKOL profile link to it; the rest are shown as registered.

Timothy A Benke, MD PhD
University of Colorado, Denver
Principal Investigator
clinicaltrials.gov ↗

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

9 registered facilities, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

Australia

Telethon Kids Institute/perth Children'S Hospital
Perth, Nedlands Western Australia, Australia
Helen Leonard, MPHJenny Downs, PhD
Recruiting

United States

University of California Los Angeles/ucla Mattel Children'S Hospital
Los Angeles, California, United States
Rajsekar Rajaraman, MD
Recruiting
University of Colorado Denver/children'S Hospital Colorado
Aurora, Colorado, United States
Scott T Demarest, MD MSCSTimothy A Benke, MD PhD
Recruiting
Harvard Medical School/boston Children'S Hospital
Boston, Massachusetts, United States
Heather E Olson, MDWill Hong, MD
Recruiting
Washington University in St. Louis/st. Louis Children'S Hospital
St Louis, Missouri, United States
Judith Weisenberg, MD
Recruiting
Nyu Langone Health
New York, New York, United States
Dana Price, MD
Recruiting
Cleveland Clinic Foundation
Cleveland, Ohio, United States
Elia Pestana Knight, MD
Recruiting
Children'S Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Eric Marsh, MD PhDErin Prange, MSN CRNP
Recruiting
Baylor College of Medicine/ Texas Children'S Hospital
Houston, Texas, United States
Bernhard Suter
Recruiting

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

No drug or biological interventions are in our data for this study — it may test a procedure, device or behavioral intervention, or the intervention list isn't in our current snapshot. See the registry record ↗. Why? →

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start: 15 Feb 2021
Primary completion: 15 Feb 2026
Completion: 15 Feb 2027
Last update posted: 6 Dec 2023
Registered enrollment: 1,000
Registry id: NCT05558371

clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; findmyKOL does not interpret them.