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NCT05373719Active, not recruiting

Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder

Endpoint Enabling Study of Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD)

Source: ClinicalTrials.gov · Last updated 10 Mar 2025

Brief summary (registry, in English)

Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent kinase-like 5 deficiency disorder.

Status (registry)
Active, not recruiting
Study type
Observational
Enrollment
112 (actual)
First submitted
6 May 2022
Start date
30 Sept 2022
Primary completion date
20 Jan 2027
Lead sponsor
Loulou Foundation
NCT number
NCT05373719

What you commit to

  • Study type: Observational
  • Participants enrolled: 112
  • From 30 Sept 2022 to the primary completion date, 20 Jan 2027
  • 22 sites in 7 countries
  • Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Other illness

  • Any clinically significant neurocognitive deficit not attributable to Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder or a secondary cause that may, in the opinion of the investigator, confound interpretation of study results (e.g., extreme prematurity, other genetic variants, unclassified CDKL5 variant, abnormal brain imaging, imaging and/or injury not otherwise attributable to CDD).
  • Any condition that, in the opinion of the investigator, would put the patient at undue risk or make it unsafe for the patient to participate
  • Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study

Who the study is looking for

  • Documented diagnosis of Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder with pathogenic or likely pathogenic of CDKL5 variants
  • Ages newborn to 55 years old
  • Parent/Caregiver who is willing and capable of providing written informed consent
  • Parent/caregiver lives with or has daily contact with study participant and able to provide consistent information across the study

Age in the registry: - to 55 years · Sex: All · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (22)

Sites in registry order. Pick your city on the disease page to sort them by distance.

SiteCityCountrySite status
Mediclinic
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DubaiUnited Arab EmiratesUnknown status
Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology
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CalgaryCanadaUnknown status
The Hospital of Sick Children
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TorontoCanadaUnknown status
DRK Berlin - Epilepsiezentrum und Neuropädiatrie
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BerlinGermanyUnknown status
Schön Klinik Vogtareuth
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VogtareuthGermanyUnknown status
Ruber Internacional Hospital
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MadridSpainUnknown status
Hospital UniversitarioVithas Madrid
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MadridSpainUnknown status
Hospital Infantil Universitario Nino Jesus
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MadridSpainUnknown status
Hopital Necker Enfants Malades
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ParisFranceUnknown status
Azienda Ospedaliero-Universitaria Meyer
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FlorenceItalyUnknown status
Fondazione Policlinico Universitario A. Gemelli IRCCS
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RomaItalyUnknown status
Ospedale Pediatrico Bambino Gesù
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RomeItalyUnknown status
Azienda Ospedaliera Universitaria Integrata di Verona
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VeronaItalyUnknown status
Children's Hospital Colorado
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AuroraUnited StatesUnknown status
Boston Children's Hospital
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BostonUnited StatesUnknown status
Cincinnati Children's Hospital Medical Center
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CincinnatiUnited StatesUnknown status
The Cleveland Clinic
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ClevelandUnited StatesUnknown status
Baylor College of Medicine
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HoustonUnited StatesUnknown status
UCLA Mattel Children's Hospital
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Los AngelesUnited StatesUnknown status
New York University
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New YorkUnited StatesUnknown status
Center for Rare Neurological Diseases
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NorcrossUnited StatesUnknown status
Childrens Hospital of Philadlephia Division of Neurology
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PhiladelphiaUnited StatesUnknown status

This page is information, not medical advice. Discuss any trial with your doctor.