Recruiting

Validated Outcomes

Sponsor:

University of Colorado, Denver

Code:

NCT05558371

Conditions

CDKL5

CDKL5 Deficiency Disorder

CDD

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

No intervention.

Study Details

Brief 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.

Conditions

CDKL5

CDKL5 Deficiency Disorder

CDD

Study ID

NCT05558371

Start date

Feb 15, 2021

Status verified date

Dec, 2023

Completion date

Feb 15, 2027

Anticipated

Primary completion date

Feb 15, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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 Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Interventions

No intervention.

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

Primary outcome measure

  • CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Clinician (CCSA-Clinician) [ Time Frame: 5 years ]
  • CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Caregiver (CCSA-Caregiver) [ Time Frame: 5 years ]
  • CDKL5 Deficiency Disorder (CDD) Development Questionnaire - Caregiver (CDQ-Caregiver) [ Time Frame: 5 years ]
  • Communication and Symbolic Behavior Scales - Developmental Profile Infant Toddler Checklist (CSBS-DP ITC) [ Time Frame: 5 years ]
  • Sleep Disorder Scale for Children (SDSC) [ Time Frame: 5 years ]
  • Quality of Life Inventory - Disability (QI-Disability) [ Time Frame: 5 years ]
  • CDKL5 Deficiency Disorder (CDD) Gross Motor (CDD-Motor) [ Time Frame: 5 years ]
  • CDKL5 Deficiency Disorder (CDD) Fine Motor (CDD-Hand) [ Time Frame: 5 years ]
  • Electroencephalogram/Evoked Potentials (EEG/EP) characteristics in CDKL5 Deficiency Disorder. [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Sharon R Pincus, MA

303-949-7116sharon.pincus@cuanschutz.edu

Scott T Demarest, MD MSCS

iccrn@childrenscolorado.org

Locations

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

Recruiting

Los Angeles, California, United States, 90095

Contacts

Angela Martinez

angelamartinez@mednet.ucla.edu

Principal Investigator:

Rajsekar Rajaraman, MD

University of Colorado Denver/Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Sharon R Pincus, MA

303-949-7116sharon.pincus@cuanschutz.edu

Maria F Abila

720-777-3699maria.abila@childrenscolorado.org

Principal Investigator:

Timothy A Benke, MD PhD

Harvard Medical School/Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Isa Haviland

isabel.haviland@childrens.harvard.edu

Jenna Lukash

jenna.lucash@childrens.harvard.edu

Principal Investigator:

Heather E Olson, MD

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

Recruiting

Saint Louis, Missouri, United States, 63110

Contacts

Olga Novak

novako@wustl.edu

Ali Vonderheid

vonderheida@wustl.edu

Principal Investigator:

Judith Weisenberg, MD

NYU Langone Health

Recruiting

New York, New York, United States, 10016

Contacts

Jacob Sloane

jacob.sloane@nyulangone.org

Juliana Laze

juliana.laze@nyulangone.org

Principal Investigator:

Dana Price, MD

Cleveland Clinic Foundation

Recruiting

Cleveland, Ohio, United States, 44195

Contacts

Xiaoming Zhang

zhangx6@ccf.org

Honglian Huang

huangh2@ccf.org

Principal Investigator:

Elia Pestana Knight, MD

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Holly Dubbs

mdubbsh@chop.edu

Principal Investigator:

Eric Marsh, MD PhD

Baylor College of Medicine/ Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Elif Dundar

ecdunda2@texaschildrens.org

Principal Investigator:

Bernhard Suter

More Information

Sponsor

University of Colorado, Denver

Last update posted

Dec 6, 2023

Last verified

Dec, 2023

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by University of Colorado, Denver on 2023-12-06.