CDKL5ICCRNNCT05558371
International CDKL5 Clinical Research Network
An observational study of CDKL5 and CDKL5 Deficiency Disorder, run by University of Colorado, Denver at 9 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 month to 100 years
- Conditions the study is for
- CDKL5, CDKL5 Deficiency Disorder, CDD
- How many people
- 1,000 participants
- Where
- 9 sitesin 2 countries
- Study dates
- 15 Feb 2021to 15 Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with CDKL5 Deficiency Disorder (CDD).
Who may be able to join
- 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.
Who cannot join
- Individuals who do not meet study inclusion criteria.
Trial locations and contacts
9 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
Scott T Demarest, MD MSCS contact
9 sites in 2 countries
United States8 sites, 8 recruiting
- Recruiting
University of Colorado Denver/Children's Hospital Colorado
Aurora, Colorado, 80045
Sharon R Pincus, MA, 303-949-7116, sharon.pincus@cuanschutz.edu
Maria F Abila, 720-777-3699, maria.abila@childrenscolorado.org
- Recruiting
Harvard Medical School/Boston Children's Hospital
Boston, Massachusetts, 02115
Isa Haviland, isabel.haviland@childrens.harvard.edu
Jenna Lukash, jenna.lucash@childrens.harvard.edu
- Recruiting
Cleveland Clinic Foundation
Cleveland, Ohio, 44195
Xiaoming Zhang, zhangx6@ccf.org
Honglian Huang, huangh2@ccf.org
- Recruiting
Baylor College of Medicine/ Texas Children's Hospital
Houston, Texas, 77030
Elif Dundar, ecdunda2@texaschildrens.org
Bernhard Suter
- Recruiting
University of California Los Angeles/UCLA Mattel Children's Hospital
Los Angeles, California, 90095
Angela Martinez, angelamartinez@mednet.ucla.edu
Rajsekar Rajaraman, MD
- Recruiting
NYU Langone Health
New York, New York, 10016
Jacob Sloane, jacob.sloane@nyulangone.org
Juliana Laze, juliana.laze@nyulangone.org
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Holly Dubbs, mdubbsh@chop.edu
Eric Marsh, MD PhD
- Recruiting
Washington University in St. Louis/St. Louis Children's Hospital
St Louis, Missouri, 63110
Olga Novak, novako@wustl.edu
Ali Vonderheid, vonderheida@wustl.edu
Australia1 site, 1 recruiting
- Recruiting
Telethon Kids Institute/Perth Children's Hospital
Perth, Nedlands Western Australia, 6009
Jacinta Saldaris, PhD, jacinta.saldaris@telethonkids.org.au
Jenny Downs, PhD, cdkl5@telethonkids.org.aus
About this study
Official title: Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder
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.
Read the detailed description
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.
- Conditions
- CDKL5, CDKL5 Deficiency Disorder, CDD
- Being tested
- No intervention.
- Medical subject headings
- CDKL5 deficiency disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No intervention.Other
No intervention administered as part of this study; observational only.
What is being measured
The primary outcome is the main question the study is designed to answer.
CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Clinician (CCSA-Clinician)
Measured by clinician rating of patient. Item scores are transformed to a scale of 0-100 and the total score is calculated as a mean item score. Higher scores indicate higher severity.
Measured: 5 years
CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Caregiver (CCSA-Caregiver)
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
Measured: 5 years
CDKL5 Deficiency Disorder (CDD) Development Questionnaire - Caregiver (CDQ-Caregiver)
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
Measured: 5 years
Communication and Symbolic Behavior Scales - Developmental Profile Infant Toddler Checklist (CSBS-DP ITC)
Measured by caregiver/parent rating of patient on a 24-item questionnaire. Three composite scores and a total score can be derived. Items contribute to the 0-57 point scale for the total score with lower scores indicating concerns for communication skills.
Measured: 5 years
Sleep Disorder Scale for Children (SDSC)
Measured by caregiver/parent rating of patient on a 26- Likert type item questionnaire. Scale goes from 0-39 with a higher score indicating higher severity of sleep disorder. Each subscale is scored through the summation of all the subscale items. Comparing scores were the normative data reported in the initial validation paper, z-scores and t-scores can be derived. The t-score enables scores to be dichotomized as within normal range or outside of normal range, compared to the general population.
Measured: 5 years
Quality of Life Inventory - Disability (QI-Disability)
This is a quality of life measure for children with intellectual disability. The measure comprises 32 items that are rated on a five-point Likert scale and group into six subscales: physical health, positive emotions, negative emotions, social interactions, independence, and leisure and outdoors. Following transformation to a 100-point scale, item scores in each subscale are summed and divided by the number of items to give a subscale score. The mean of the six subscale scores is calculated to give the total QOL score.
Measured: 5 years
CDKL5 Deficiency Disorder (CDD) Gross Motor (CDD-Motor)
This is a video measure of gross motor function, based on the Rett Syndrome Gross Motor Scale with additional items that enable measurement of head control and sitting. Parents are provided with a filming protocol, video clips are uploaded to the investigators, and data are coded according to a predetermined coding system.
Measured: 5 years
CDKL5 Deficiency Disorder (CDD) Fine Motor (CDD-Hand)
This is a video measure of fine motor function based on the Rett Syndrome Hand Function Scale with additional instructions on filming for if the patient has Cortical Visual Impairment. Parents are provided with a filming protocol, video clips are uploaded to the investigators, and data are coded according to a predetermined coding system.
Measured: 5 years
Electroencephalogram/Evoked Potentials (EEG/EP) characteristics in CDKL5 Deficiency Disorder.
Measured by correlations of EEG/EP with other study scales.
Measured: 5 years
Secondary outcomes (3)
Frequency of different mutations in the CDKL5 Deficiency Disorder population
Measured by information obtained from genetic reports of enrolled participants.
Measured: 5 years
Frequency of medications and their indications in the CDKL5 Deficiency Disorder population
Measured by medication/indication data obtained from medical record review and/or caregiver report.
Measured: 5 years
Social Determinants of Health (SDOH) in CDKL5 Deficiency Disorder population
Measured by data elements that are collected to describe the socioeconomic status of the study population. Examples include caregiver education level, marital status and employment status, patient living situation, household income, and primary caregiver information.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2022
- Study start15 Feb 2021
- Primary completion15 Feb 2026 (estimated)
- Study completion15 Feb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for CDKL5Studies of the same condition, open and under way.
- More trials run by University of Colorado, DenverThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), International Foundation for CDKL5 Research
- Responsible party
- Sponsor
- Investigators
- Timothy A Benke, MD PhD, Principal investigator, University of Colorado, Denver
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05558371
- Sponsor's protocol ID
- 19-2756
- Other IDs
- 5U01NS114312
- Acronym
- ICCRN
- Status last verified
- Dec 2023
- First submitted
- 28 Jul 2022
- Last updated
- 6 Dec 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The ICCRN will be utilizing the National Institute of Mental Health (NIMH) Data Archive (NDA), previously known as the National Database for Autism Research (NDAR), as our final deidentified repository of our data. We will utilize Global Unique Identifiers to ensure we have deconflicted patient data across all institutions. Each institution will be directly uploading patient data to our central REDCap database to allow for cleaning of data prior to upload to NDA. Our data elements will be harmonized with other NDA elements where appropriate at the start of the study. The one exception is patient videos which will be reviewed at Telethon kids secure network for analysis, but the scored results of validated motor scales will be uploaded to NDAR in a deidentified fashion. All scales, outcome measures, and protocols (both for scoring and implementation of COMs) will also be shared through publications.
Publications
Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z.
PubMed 34530725Brock D, Fidell A, Thomas J, Juarez-Colunga E, Benke TA, Demarest S. Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement. J Child Neurol. 2021 Oct;36(11):974-980. doi: 10.1177/08830738211019284.
PubMed 34547934Saldaris J, Weisenberg J, Pestana-Knight E, Marsh ED, Suter B, Rajaraman R, Heidary G, Olson HE, Devinsky O, Price D, Jacoby P, Leonard H, Benke TA, Demarest S, Downs J. Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. J Child Neurol. 2021 Oct;36(11):998-1006. doi: 10.1177/08830738211019576. Epub 2021 Aug 11.
PubMed 34378447Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 Nov;63(11):1308-1315. doi: 10.1111/dmcn.14908. Epub 2021 May 24.
PubMed 34028805MacKay CI, Bick D, Prokop JW, Munoz I, Rouse J, Downs J, Leonard H. Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory? Am J Med Genet A. 2020 May;182(5):1217-1222. doi: 10.1002/ajmg.a.61504. Epub 2020 Feb 8.
PubMed 32034940Dale T, Downs J, Wong K, Leonard H. The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder. Epilepsy Behav. 2021 Sep;122:108152. doi: 10.1016/j.yebeh.2021.108152. Epub 2021 Jun 18.
PubMed 34148781Leonard H, Junaid M, Wong K, Demarest S, Downs J. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder. Epilepsy Res. 2021 Jan;169:106521. doi: 10.1016/j.eplepsyres.2020.106521. Epub 2020 Dec 1.
PubMed 33341033MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Clin Genet. 2021 Jan;99(1):157-165. doi: 10.1111/cge.13862. Epub 2020 Oct 20.
PubMed 33047306Benke TA, Kind PC. Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. Brain. 2020 Mar 1;143(3):716-718. doi: 10.1093/brain/awaa055.
PubMed 32203572
Study at a glance
From the registry record, last updated by the sponsor on 6 Dec 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder
- ClinicalTrials.gov ID
- NCT05558371
- Acronym / sponsor ID
- ICCRN / 19-2756
- Conditions
- CDKL5, CDKL5 Deficiency Disorder, CDD
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), International Foundation for CDKL5 Research
- Study start
- 15 Feb 2021 (actual)
- Primary completion
- 15 Feb 2026 (estimated)
- Study completion
- 15 Feb 2027 (estimated)
- First posted
- 28 Sep 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 month to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with CDKL5 Deficiency Disorder (CDD).
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- Individuals who do not meet study inclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No intervention.No intervention administered as part of this study; observational only. | Other | – |
Primary outcome
CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Clinician (CCSA-Clinician)
Time frame: 5 years
Measured by clinician rating of patient. Item scores are transformed to a scale of 0-100 and the total score is calculated as a mean item score. Higher scores indicate higher severity.
CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Caregiver (CCSA-Caregiver)
Time frame: 5 years
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
CDKL5 Deficiency Disorder (CDD) Development Questionnaire - Caregiver (CDQ-Caregiver)
Time frame: 5 years
Measured by caregiver/parent rating of patient on a scale of 0-100 with a higher score indicating higher severity.
Communication and Symbolic Behavior Scales - Developmental Profile Infant Toddler Checklist (CSBS-DP ITC)
Time frame: 5 years
Measured by caregiver/parent rating of patient on a 24-item questionnaire. Three composite scores and a total score can be derived. Items contribute to the 0-57 point scale for the total score with lower scores indicating concerns for communication skills.
Sleep Disorder Scale for Children (SDSC)
Time frame: 5 years
Measured by caregiver/parent rating of patient on a 26- Likert type item questionnaire. Scale goes from 0-39 with a higher score indicating higher severity of sleep disorder. Each subscale is scored through the summation of all the subscale items. Comparing scores were the normative data reported in the initial validation paper, z-scores and t-scores can be derived. The t-score enables scores to be dichotomized as within normal range or outside of normal range, compared to the general population.
Quality of Life Inventory - Disability (QI-Disability)
Time frame: 5 years
This is a quality of life measure for children with intellectual disability. The measure comprises 32 items that are rated on a five-point Likert scale and group into six subscales: physical health, positive emotions, negative emotions, social interactions, independence, and leisure and outdoors. Following transformation to a 100-point scale, item scores in each subscale are summed and divided by the number of items to give a subscale score. The mean of the six subscale scores is calculated to give the total QOL score.
CDKL5 Deficiency Disorder (CDD) Gross Motor (CDD-Motor)
Time frame: 5 years
This is a video measure of gross motor function, based on the Rett Syndrome Gross Motor Scale with additional items that enable measurement of head control and sitting. Parents are provided with a filming protocol, video clips are uploaded to the investigators, and data are coded according to a predetermined coding system.
CDKL5 Deficiency Disorder (CDD) Fine Motor (CDD-Hand)
Time frame: 5 years
This is a video measure of fine motor function based on the Rett Syndrome Hand Function Scale with additional instructions on filming for if the patient has Cortical Visual Impairment. Parents are provided with a filming protocol, video clips are uploaded to the investigators, and data are coded according to a predetermined coding system.
Electroencephalogram/Evoked Potentials (EEG/EP) characteristics in CDKL5 Deficiency Disorder.
Time frame: 5 years
Measured by correlations of EEG/EP with other study scales.
3 secondary outcomes
Frequency of different mutations in the CDKL5 Deficiency Disorder population
Time frame: 5 years
Frequency of medications and their indications in the CDKL5 Deficiency Disorder population
Time frame: 5 years
Social Determinants of Health (SDOH) in CDKL5 Deficiency Disorder population
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Dec 2023.
- Background: PubMed 34530725Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z.
- Background: PubMed 34547934Brock D, Fidell A, Thomas J, Juarez-Colunga E, Benke TA, Demarest S. Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement. J Child Neurol. 2021 Oct;36(11):974-980. doi: 10.1177/08830738211019284.
- Background: PubMed 34378447Saldaris J, Weisenberg J, Pestana-Knight E, Marsh ED, Suter B, Rajaraman R, Heidary G, Olson HE, Devinsky O, Price D, Jacoby P, Leonard H, Benke TA, Demarest S, Downs J. Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. J Child Neurol. 2021 Oct;36(11):998-1006. doi: 10.1177/08830738211019576. Epub 2021 Aug 11.
- Background: PubMed 34028805Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 Nov;63(11):1308-1315. doi: 10.1111/dmcn.14908. Epub 2021 May 24.
- Background: PubMed 32034940MacKay CI, Bick D, Prokop JW, Munoz I, Rouse J, Downs J, Leonard H. Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory? Am J Med Genet A. 2020 May;182(5):1217-1222. doi: 10.1002/ajmg.a.61504. Epub 2020 Feb 8.
- Background: PubMed 34148781Dale T, Downs J, Wong K, Leonard H. The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder. Epilepsy Behav. 2021 Sep;122:108152. doi: 10.1016/j.yebeh.2021.108152. Epub 2021 Jun 18.
- Background: PubMed 33341033Leonard H, Junaid M, Wong K, Demarest S, Downs J. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder. Epilepsy Res. 2021 Jan;169:106521. doi: 10.1016/j.eplepsyres.2020.106521. Epub 2020 Dec 1.
- Background: PubMed 33047306MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Clin Genet. 2021 Jan;99(1):157-165. doi: 10.1111/cge.13862. Epub 2020 Oct 20.
- Background: PubMed 32203572Benke TA, Kind PC. Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. Brain. 2020 Mar 1;143(3):716-718. doi: 10.1093/brain/awaa055.
- Individual participant dataSharing planned: Yes. The ICCRN will be utilizing the National Institute of Mental Health (NIMH) Data Archive (NDA), previously known as the National Database for Autism Research (NDAR), as our final deidentified repository of our data. We will utilize Global Unique Identifiers to ensure we have deconflicted patient data across all institutions. Each institution will be directly uploading patient data to our central REDCap database to allow for cleaning of data prior to upload to NDA. Our data elements will be harmonized with other NDA elements where appropriate at the start of the study. The one exception is patient videos which will be reviewed at Telethon kids secure network for analysis, but the scored results of validated motor scales will be uploaded to NDAR in a deidentified fashion. All scales, outcome measures, and protocols (both for scoring and implementation of COMs) will also be shared through publications.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Scott T Demarest, MD MSCS contact
Timothy A Benke, MD PhD principal investigator
University of Colorado, Denver
9 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CDKL5 and CDKL5 Deficiency Disorder, run by University of Colorado, Denver at 9 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Dec 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in United States, Australia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sharon R Pincus, MA (303-949-7116, sharon.pincus@cuanschutz.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CDKL5 Deficiency Disorder (CDD) Clinical Severity Assessment - Clinician (CCSA-Clinician) (time frame: 5 years). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05558371, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Dec 2023.