Disease · MONDO_0011652
Phelan-McDermid syndrome
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. Phelan-McDermid syndrome. Diseases, record MONDO_0011652. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0011652
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.
Drugs6
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 |
|---|---|---|---|---|---|---|---|---|
| NNZ-2591 | CHEMBL4802144 | Small molecule | Phase 3 | ClinicalTrials.gov | 3 | 3 | 3 | Drugs and targets |
| LITHIUM CARBONATE | CHEMBL1200826 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| SOMATROPIN | CHEMBL1201621 | Protein | Phase 2 | ClinicalTrials.gov | 3 | 3 | 3 | Drugs and targets |
| DIAZEPINOMICIN | CHEMBL550961 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| MECASERMIN | CHEMBL1201716 | Protein | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| OXYTOCIN | CHEMBL395429 | Protein | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets6
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 |
|---|---|---|---|---|---|---|
| GHR | Growth hormone receptor | 1 | Growth hormone receptor agonist | Phase 2 | https://conductscience.org/library/genes/2690 | Drugs and targets |
| GSK3A | Glycogen synthase kinase-3 | 1 | Glycogen synthase kinase-3 inhibitor | Phase 3 | https://conductscience.org/library/genes/2931 | Drugs and targets |
| GSK3B | Glycogen synthase kinase-3 | 1 | Glycogen synthase kinase-3 inhibitor | Phase 3 | https://conductscience.org/library/genes/2932 | Drugs and targets |
| IGF1R | Insulin-like growth factor 1 receptor | 1 | Insulin-like growth factor I receptor agonist | Phase 2 | https://conductscience.org/library/genes/3480 | Drugs and targets |
| IMPA1 | Inositol monophosphatase 1 | 1 | Inositol-1(or 4)-monophosphatase 1 inhibitor | Phase 3 | https://conductscience.org/library/genes/3612 | Drugs and targets |
| OXTR | Oxytocin receptor | 1 | Oxytocin receptor agonist | Phase 2 | https://conductscience.org/library/genes/5021 | Drugs and targets |
Trials10
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 |
|---|---|---|---|---|---|---|---|---|
| NCT01525901 | Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) | Phase 2 | 19 | 2022-05-12 | 22q13 Deletion Syndrome, Phelan-McDermid Syndrome | MECASERMIN | Its record names the disease | ClinicalTrials.gov |
| NCT02710084 | Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome | Phase 2 | 18 | 2021-12-06 | Phelan-McDermid Syndrome | OXYTOCIN | Its record names the disease | ClinicalTrials.gov |
| NCT05025241 | An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001) | Phase 2 | 18 | 2025-05-30 | Phelan-McDermid Syndrome | NNZ-2591 | Its record names the disease | ClinicalTrials.gov |
| NCT03493607 | AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy | Phase 2 | 6 | 2021-06-22 | Phelan-McDermid Syndrome, Epilepsy | DIAZEPINOMICIN | Its record names the disease | ClinicalTrials.gov |
| NCT04003207 | Growth Hormone Treatment in Children With Phelan McDermid Syndrome | Phase 2 | 6 | 2024-05-02 | Phelan McDermid Syndrome | SOMATROPIN | Its record names the disease | ClinicalTrials.gov |
| NCT07593391 | An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome | Phase 3 | 180 | Phelan-McDermid Syndrome | NNZ-2591 | Its record names the disease | ClinicalTrials.gov | |
| NCT07281079 | A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome | Phase 3 | 160 | Phelan-McDermid Syndrome | NNZ-2591 | Its record names the disease | ClinicalTrials.gov | |
| NCT05187377 | A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism | Phase 2 | 32 | Phelan-McDermid Syndrome, Autism Spectrum Disorder (ASD) | SOMATROPIN | Its record names the disease | ClinicalTrials.gov | |
| NCT04623398 | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) | Phase 3 | 22 | Autism Spectrum Disorder | LITHIUM CARBONATE | Its record names the disease | ClinicalTrials.gov | |
| NCT05105685 | Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS | Phase 1/2 | 6 | Phelan-McDermid Syndrome, Growth Hormone Treatment | SOMATROPIN | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials4
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 |
|---|---|---|---|---|---|
| Insulin-Like Growth Factor-1 (IGF-1) vs Normal Saline: deaths from any cause | 0 of 19 | 0 of 19 | 38 | NCT01525901 | Trial comparisons |
| Insulin-Like Growth Factor-1 (IGF-1) vs Normal Saline: serious adverse events | 0 of 19 | 0 of 19 | 38 | NCT01525901 | Trial comparisons |
| Saline vs Intranasal Oxytocin: deaths from any cause | 0 of 10 | 15 of 15 | 25 | NCT02710084 | Trial comparisons |
| Saline vs Intranasal Oxytocin: serious adverse events | 0 of 10 | 0 of 15 | 25 | NCT02710084 | Trial comparisons |
Papers from its trials5
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
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_0011652
GET https://conductscience.org/api/diseases/v1/MONDO_0011652/drugs