Disease · MONDO_0100039
CDKL5 disorder
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. CDKL5 disorder. Diseases, record MONDO_0100039. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0100039
On this page
Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Name
- CDKL5 disorder
- Open Targets ID
- MONDO_0100039
- Other names
- CDKL5 Deficiency Disorder, CDKL5 inherited genetic disease, inherited genetic disease caused by mutation in CDKL5
- Highest stage of its drugs
- Phase 3, for 1 of its 2 drugs, from ClinicalTrials.gov
Source Open Targets
Drugs2
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| FENFLURAMINE | CHEMBL87493 | Small molecule | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| SOTICLESTAT | CHEMBL4298172 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets4
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| CYP46A1 | Cholesterol 24-hydroxylase | 1 | Cholesterol 24-hydroxylase inhibitor | Phase 2 | https://conductscience.org/library/genes/10858 | Drugs and targets |
| HTR1D | 5-hydroxytryptamine receptor 1D | 1 | Serotonin 1d (5-HT1d) receptor agonist | Phase 3 | https://conductscience.org/library/genes/3352 | Drugs and targets |
| HTR2C | 5-hydroxytryptamine receptor 2C | 1 | Serotonin 2c (5-HT2c) receptor agonist | Phase 3 | https://conductscience.org/library/genes/3358 | Drugs and targets |
| SIGMAR1 | Sigma non-opioid intracellular receptor 1 | 1 | Sigma opioid receptor antagonist | Phase 3 | https://conductscience.org/library/genes/10280 | Drugs and targets |
Trials3
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT03635073 | A Study of Soticlestat in Adults and Children With Rare Epilepsies | Phase 2 | 156 | 2026-03-19 | Epilepsy, Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS) | SOTICLESTAT | Its record names the disease | ClinicalTrials.gov |
| NCT03861871 | Fenfluramine in CDKL5 Deficiency Disorder (CDD) | Phase 2 | 7 | 2023-10-04 | CDD | FENFLURAMINE | Its record names the disease | ClinicalTrials.gov |
| NCT05064878 | A Phase 3 Study to Examine the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder. | Phase 3 | 87 | CDKL5 Deficiency Disorder, Generalized Tonic Clonic Seizure, Epileptic Spasm, Refractory Seizures | FENFLURAMINE | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials0
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
None in this release.
Papers from its trials1
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
| PMID | Listed as | Trials listing it |
|---|---|---|
| 33979451 | DERIVED | 1 |
Source PubMed
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0100039
GET https://conductscience.org/api/diseases/v1/MONDO_0100039/drugs