Disease · MONDO_0010726
Rett syndrome
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. Rett syndrome. Diseases, record MONDO_0010726. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0010726
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.
- Other names
Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome, Cerebroatrophic Hyperammonemia, Cerebroatrophic Hyperammonemias, Cerebroatrophic hyperammonaemia, Hyperammonemia, Cerebroatrophic, Hyperammonemias, Cerebroatrophic, RETT DIS, RETTS DIS, RTS, RTS - Rett syndrome, RTT, Rett disorder, Rett syndrome, X-linked dominant, Rett syndrome, atypical, X-linked dominant, Rett syndrome, preserved speech variant, X-linked dominant, Rett's Syndrome, Rett's disorder, Rett's disorder (disorder), Retts Syndrome, Rett’s disease, Syndrome, Rett, Syndrome, Rett's
- Open Targets
Drugs23
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 |
|---|---|---|---|---|---|---|---|---|
| TROFINETIDE | CHEMBL197084 | Small molecule | Approval | FDA and TTD | 10 | 6 | 6 | Drugs and targets |
| DEXTROMETHORPHAN | CHEMBL52440 | Small molecule | Phase 3 | ClinicalTrials.gov | 4 | 4 | 4 | Drugs and targets |
| BLARCAMESINE HYDROCHLORIDE | CHEMBL4594269 | Small molecule | Phase 3 | ClinicalTrials.gov | 5 | 3 | 3 | Drugs and targets |
| CANNABIDIOL | CHEMBL190461 | Small molecule | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| DONEPEZIL HYDROCHLORIDE | CHEMBL1678 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| FENFLURAMINE HYDROCHLORIDE | CHEMBL2106217 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| BLARCAMESINE | CHEMBL4297224 | Small molecule | Phase 2/3 | ClinicalTrials.gov | 2 | 1 | 1 | Drugs and targets |
| SARIZOTAN | CHEMBL220808 | Small molecule | Phase 2/3 | ClinicalTrials.gov and TTD | 2 | 1 | 1 | Drugs and targets |
| GLATIRAMER ACETATE | CHEMBL1201507 | Small molecule | Phase 2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| MECASERMIN | CHEMBL1201716 | Protein | Phase 2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
1 to 10 of 23
See all 23 drugsTargets70
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 |
|---|---|---|---|---|---|---|
| GRIN2A | Glutamate [NMDA] receptor | 3 | Glutamate [NMDA] receptor negative allosteric modulator; Glutamate [NMDA] receptor subunit epsilon 1 antagonist | Phase 3 | https://conductscience.org/library/genes/2903 | Drugs and targets |
| ACHE | Acetylcholinesterase | 2 | Acetylcholinesterase inhibitor | Phase 3 | https://conductscience.org/library/genes/43 | Drugs and targets |
| GRIN1 | Glutamate [NMDA] receptor | 2 | Glutamate [NMDA] receptor negative allosteric modulator | Phase 2 | https://conductscience.org/library/genes/2902 | Drugs and targets |
| GRIN2B | Glutamate [NMDA] receptor | 2 | Glutamate [NMDA] receptor negative allosteric modulator | Phase 2 | https://conductscience.org/library/genes/2904 | Drugs and targets |
| GRIN2C | Glutamate [NMDA] receptor | 2 | Glutamate [NMDA] receptor negative allosteric modulator | Phase 2 | https://conductscience.org/library/genes/2905 | Drugs and targets |
| GRIN2D | Glutamate [NMDA] receptor | 2 | Glutamate [NMDA] receptor negative allosteric modulator | Phase 2 | https://conductscience.org/library/genes/2906 | Drugs and targets |
| GRIN3A | Glutamate [NMDA] receptor | 2 | Glutamate [NMDA] receptor negative allosteric modulator | Phase 2 | https://conductscience.org/library/genes/116443 | Drugs and targets |
| GRIN3B | Glutamate [NMDA] receptor | 2 | Glutamate [NMDA] receptor negative allosteric modulator | Phase 2 | https://conductscience.org/library/genes/116444 | Drugs and targets |
| HTR2C | 5-hydroxytryptamine receptor 2C | 2 | Serotonin 2c (5-HT2c) receptor agonist; Serotonin 2c (5-HT2c) receptor antagonist | Phase 3 | https://conductscience.org/library/genes/3358 | Drugs and targets |
| SIGMAR1 | Sigma non-opioid intracellular receptor 1 | 2 | Sigma opioid receptor agonist; Sigma opioid receptor antagonist | Phase 3 | https://conductscience.org/library/genes/10280 | Drugs and targets |
1 to 10 of 70
See all 70 targetsTrials31
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 |
|---|---|---|---|---|---|---|---|---|
| NCT04181723 | Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™) | Phase 3 | 187 | 2024-04-08 | Rett Syndrome | TROFINETIDE | Its record names the disease | ClinicalTrials.gov |
| NCT04279314 | Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome | Phase 3 | 154 | 2024-04-11 | Rett Syndrome | TROFINETIDE | Its record names the disease | ClinicalTrials.gov |
| NCT02790034 | Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms | Phase 2/3 | 129 | 2021-12-21 | Rett Syndrome | SARIZOTAN | Its record names the disease | ClinicalTrials.gov |
| NCT04776746 | Open-Label Extension Study of Trofinetide for Rett Syndrome | Phase 3 | 77 | 2024-09-27 | Rett Syndrome | TROFINETIDE | Its record names the disease | ClinicalTrials.gov |
| NCT01520363 | Placebo Controlled Trial of Dextromethorphan in Rett Syndrome | Phase 2 | 57 | 2018-10-23 | Rett Syndrome | DEXTROMETHORPHAN | Its record names the disease | ClinicalTrials.gov |
| NCT00593957 | Trial of Dextromethorphan in Rett Syndrome | Phase 2 | 38 | 2014-04-23 | Rett Syndrome | DEXTROMETHORPHAN | Its record names the disease | ClinicalTrials.gov |
| NCT01777542 | Treatment of Rett Syndrome With Recombinant Human IGF-1 | Phase 2 | 30 | 2018-03-26 | Rett Syndrome | MECASERMIN | Its record names the disease | ClinicalTrials.gov |
| NCT03848832 | Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome | Phase 3 | 29 | 2021-12-29 | Rett Syndrome, RTT | CANNABIDIOL | Its record names the disease | ClinicalTrials.gov |
| NCT03633058 | A Study to Evaluate Ketamine for the Treatment of Rett Syndrome | Phase 2 | 23 | 2024-03-27 | Rett Syndrome | KETAMINE | Its record names the disease | ClinicalTrials.gov |
| NCT04252586 | A Long-term Safety Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome | Phase 3 | 21 | 2022-08-08 | Rett Syndrome, RTT | CANNABIDIOL | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 31
See all 31 trialsComparisons in its trials2
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.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| Drug - Trofinetide vs Placebo: deaths from any cause | 0 of 93 | 0 of 94 | 187 | NCT04181723 | Trial comparisons |
| Drug - Trofinetide vs Placebo: serious adverse events | 3 of 93 | 3 of 94 | 187 | NCT04181723 | Trial comparisons |
Papers from its trials15
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 | Source |
|---|---|---|---|
| 27363291 | RESULT | 1 | PubMed |
| 42481172 | DERIVED | 1 | PubMed |
| 40043705 | DERIVED | 1 | PubMed |
| 39856538 | DERIVED | 1 | PubMed |
| 39766837 | DERIVED | 1 | PubMed |
| 38917793 | DERIVED | 1 | PubMed |
| 38363467 | DERIVED | 3 | PubMed |
| 37460385 | DERIVED | 6 | PubMed |
| 37291210 | DERIVED | 1 | PubMed |
| 35149233 | DERIVED | 1 | PubMed |
1 to 10 of 15
See all 15 papers from its trialsData 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_0010726
GET https://conductscience.org/api/diseases/v1/MONDO_0010726/drugs?page=2