Baseline Characteristics and Feasibility of Clinical Outcome Measures in CDKL5 Deficiency Disorder: The CANDID Observational Study
| Journal | Epilepsia |
| Study Type | Observational Study |
| Population | Human participants |
This item covers developments relevant to cannabis medicine and clinical practice. Clinicians monitoring evidence in this area should review the source material.
CDKL5 deficiency disorder (CDD) is a rare X-linked developmental and epileptic encephalopathy caused by loss-of-function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies. This precompetitive consortium sought to harmonize nonseizure clinical endpoint selection for efficacy trials. Clinical Assessment of Neurodevelopmental Measures in CDD (CANDID) is an ongoing study evaluating the feasibility and suitability of neurocognitive tests and functioning scales in CDD patients. CANDID is a 3-year, longitudinal, noninterventional global study involving children and adults with CDD. On-site and remote visits include clinical, behavioral, developmental, and quality of life assessments. We enrolled 112 patients (111 included in analyses); mean age = 8.3 years (range 16 seizures; six were seizure-free. Median seizure onset was at 1.5 months (range = 0-66). Patients used an average of 2.6 antiseizure me
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FAQ
What is CDKL5 deficiency disorder?
CDKL5 deficiency disorder, or CDD, is a rare X-linked developmental and epileptic encephalopathy. It is caused by loss-of-function variants in the CDKL5 gene. The CANDID study described here involves both children and adults who have the condition.
What is the goal of the CANDID study?
CANDID, short for Clinical Assessment of Neurodevelopmental Measures in CDD, evaluates whether neurocognitive tests and functioning scales are feasible and suitable for people with CDD. It comes from a precompetitive consortium that sought to harmonize the selection of nonseizure clinical endpoints for future efficacy trials.
How is the CANDID study of CDKL5 deficiency designed?
CANDID is an ongoing 3-year, longitudinal, noninterventional global study involving children and adults with CDD. Participants have both on-site and remote visits, which include clinical, behavioral, developmental, and quality of life assessments. Because it is noninterventional, the study observes patients rather than testing a treatment.
Are new treatments being developed for CDKL5 deficiency disorder?
Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies. CANDID itself does not test these treatments. It is a noninterventional study evaluating neurocognitive tests and functioning scales, part of an effort to harmonize nonseizure clinical endpoints for efficacy trials.
Who has enrolled in the CANDID study so far?
The study enrolled 112 patients with CDKL5 deficiency disorder, and 111 were included in the analyses. Participants included children and adults, with a mean age of 8.3 years. Median seizure onset was at 1.5 months of age, with a range of 0 to 66 months.
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