CDKL5 Deficiency Disorder
Conditions
Keywords
Hyperthermic Baths, Drug Resistant Epilepsy, CDKL5
Brief summary
The primary objective of this research is to study the efficacy and safety of hyperthermic baths as adjunctive therapy for reducing the frequency of seizures in CDKL5 deficiency.
Detailed description
This project aims to include 8 participants, and evaluate the effectiveness and safety of hyperthermic baths in patients with CDKL5 deficiency through A single-center, preliminary feasibility clinical trial. It is expected to provide new therapeutic options for patients with CDKL5 deficiency with alternative treatment options.
Interventions
OTHERHyperthermic Baths
The intervention will consist of 12 weeks of repeated, daily 20-min body immersions.
Sponsors
Xuanwu Hospital, Beijing
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
6 Months to 6 Years
Healthy volunteers
No
Inclusion criteria
* A diagnosis of CDKL5 deficiency, including molecular confirmation of a pathogenic or likely pathogenic CDKL5 variant and refractory seizures * Male or female participants aged 6 months to less than 6 years * Parent(s) or LAR willing to give written informed consent, after being properly informed of the nature and risks of the study and prior to engaging in any study-related procedures * Failure to control seizures despite appropriate trial of 2 or more anti-seizure medications at therapeutic doses * Have a history of at least 8 countable seizures per 4 weeks during the 8 weeks prior to screening. Countable seizures will be defined by the following:Seizures with or without impairment of consciousness with a clear motor component, including generalized tonic-clonic, focal to bilateral tonic-clonic, atonic, bilateral clonic, bilateral tonic, focal motor seizures with or without impaired awareness, or infantile spasms. Clusters of infantile spasms/tonic seizures will be counted as a single seizure. * Participants should be on a stable regimen of anti-seizure medications for ≥ 4 weeks prior to the screening visit, without a foreseeable change in dosing for the duration of the DB phase. * Vagus nerve stimulator (VNS) are permitted, but should be implanted for 1 year prior to screening and settings should be unchanged throughout the study. * Parent/caregiver is able and willing to maintain an accurate and complete daily seizure eDiary for the duration of the study.
Exclusion criteria
* Any history of previous brain disease (trauma, etc.) that likely to precipitate seizures. * Tissue damage (eczema, etc.) in the area where hyperthermic baths will be applied on the skin. * Seizures associated with hyperthermic baths. * Presence of any clinical condition that in the opinion of the principal investigator makes the patient not suitable to participate in the trial.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Seizure frequency (SF28) | Up to 12 week after hyperthermic baths | Seizure frequency (SF28) is defined as seizure count per month (28-day) period. The SF28 is calculated as follows, where D=total number of days for which seizure information is collected for the specific 28-day interval: SF28=(Total number of seizures in D days/D)\*28. In addition, the baseline seizure frequency is defined as SF28 in the baseline period. The seizure frequency in the treatment phase is defined as SF28 per month during the treatment period. Percent change in seizure frequency=100\*(treatment SF28-baseline SF28)/baseline SF28. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Seizure Responder Rate | Up to 12 week after hyperthermic baths | The proportion of patients with a ≥ 50% reduction from Baseline in seizure frequency. |
| Seizure-free Days | Up to 12 week after hyperthermic baths | Seizure-free days over the entire treatment phase |
Countries
China
Contacts
PRINCIPAL_INVESTIGATORLiankun Ren, MD
Xuanwu Hospital, Beijing
Outcome results
None listed