ClinicalTrials.gov record NCT05558371

International CDKL5 Clinical Research Network

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Dec 6, 2023, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
AgeUnder 1 month old to 100 years old
SexAll
LocationAustralia, United States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective observational study that aims to refine and validate clinical outcome measures and biomarkers for CDKL5 deficiency disorder (CDD). It is for people with CDKL5 deficiency (broadly ages 1 month to 100 years). Participants provide clinical information, caregiver and clinician ratings, motor videos, and EEG/evoked potential recordings over time at multiple sites.

What it is studying. Whether a set of clinical outcome measures (clinician- and caregiver-rated scales, questionnaires, and video-based motor assessments) and biomarkers (including EEG/evoked potentials) can be developed and validated to reliably measure disease features in people with CDKL5 deficiency disorder and be used in future clinical trials. The study also gathers baseline data and examines how EEG/EP findings relate to other study measures.

What the researchers hope to learn. Generate and validate a suite of clinical outcome measures and biomarkers needed to assess disease modification in CDD. Conduct a multi-site clinical-trial readiness study to test implementation, measure longitudinal stability, and collect historic baseline outcome data. Produce measures adaptable to other developmental and epileptic encephalopathies.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • No intervention.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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 (DEE) associated with cognitive and motor dysfunction and cortical visual impairment. Recent data suggest CDD is one of the most common genetic causes of DEE. Work in CDD animal models has demonstrated the ability for disease modification and symptom reversal: worldwide efforts are now underway to develop therapeutic strategies (including gene therapy) to treat and potentially cure CDD. While there are four active clinical trials, none assesses the full spectrum of this DEE to address true disease modification. 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. CDD has been associated historically with Rett syndrome but there are many clear distinctions and CDD has emerged as an independent disorder. Some Clinical Outcome Measures (COMs) can be adapted from Rett syndrome COMs, whereas others need to be developed specifically for CDD. Our research network is uniquely positioned to develop clinical trial readiness for CDD by pairing exceptional experience in the development and validation of outcome measures with an extensive network of CDD experts and clinical trialists. Our goals are to 1) refine and validate appropriate quantitative COMs and biomarkers and 2) conduct a multi-site clinical trial readiness study to ensure that they can be successfully implemented. We will test the hypothesis that CDD specific COMs can be refined to accurately and reproducibly track meaningful changes in clinical trials: Aim 1: Generate and validate a suite of COMs and biomarkers necessary to comprehensively assess disease modification in CDD. Aim 2: Conduct a multi-site clinical trial readiness study to assess implementation, longitudinal stability, and collect baseline COMs and EEG/evoked potential data. Overall Impact: These outcome measures will establish clinical trial readiness for CDD and generate historic baseline outcome data, ensuring optimal testing of potential new therapeutics including gene therapy. Furthermore, these measures will be adaptable to other DEEs by enabling choices of outcome measures beyond existing NINDS supported measurement tools (NeuroQoL, PROMIS, Toolbox) that are not designed for the severity of the DEE populations.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is an observational study (no treatment is given). Participants will have repeated assessments over time (outcome measures are collected over up to five years). Assessments include clinician ratings and caregiver questionnaires about severity, development, sleep, and quality of life; caregiver-filmed video uploads of gross and fine motor tasks using a provided filming protocol; and EEG/evoked-potential testing. Study staff will also review genetic reports, medication records, and basic social/demographic information from medical records or caregiver report.

How the study is structured. A prospective, observational, multi-site cohort study (no treatments administered). Investigators collect standardized clinician and caregiver ratings, questionnaires, caregiver-recorded motor videos, and EEG/evoked potential data over time (outcomes tracked up to five years) to test and validate outcome measures and biomarkers.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under CDKL5; CDKL5 Deficiency Disorder; CDD. Does it apply to my diagnosis?
  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Australia, United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Dravet syndrome

This trial is also listed on this site under CDKL5 deficiency disorder.

Clinical trials22 trials listed for Dravet syndromeEvery trial the registry lists for Dravet syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Dravet syndrome researchLatest monthly update: September 2026. Includes: CBD in practice. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Feb 15, 2021
Primary completion
Feb 15, 2026 (estimated)
Study completion
Feb 15, 2027 (estimated)
Target enrollment
1000 participants (estimated)
Last updated on registry
Dec 6, 2023
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University of Colorado, Denver
Collaborators
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institutes of Health (NIH)
  • International Foundation for CDKL5 Research

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (9)

Terms used on this page · explanations by MedicalUpdates.ai

clinical trial
A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
outcome measures
Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
inclusion criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
baseline
Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials