Phelan-McDermid Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 25 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Erratum: NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results.
Neumeyer Ann M et al. — Neurology. Genetics (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42325945/
- 2.
From stability to pathology: protein degradation pathways underlying synaptic proteins in neurological diseases.
Li Yuanyuan et al. — Neuroscience (17 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42066889/
- 3.
Apolipoprotein E4 and synaptic dysfunction in Alzheimer's disease: Mechanisms and therapeutic implications.
Yao Zhiying et al. — Ageing research reviews (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42061654/
- 4.
Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model.
Levy Tess et al. — Autism research : official journal of the International Society for Autism Research (28 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42366594/
- 5.
Phosphoproteomic profiling reveals reversal of dysregulated kinase signaling by nitric oxide inhibition in the Shank3 mouse model of autism.
Ginzburg Shelly et al. — Scientific reports (11 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42277197/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Phelan-McDermid Syndrome
Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual disability, absent or delayed speech, hypotonia, and autism spectrum features. Diagnosis rates have increased significantly with genetic testing. SHANK3-targeted therapies are under investigation.
Most Recent Research
[This corrects the article DOI: 10.1212/NXG.0000000000200338.].
Common Questions
What is Phelan-McDermid Syndrome?
Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual disability, absent or delayed speech, hypotonia, and autism spectrum features. Diagnosis rates have increased significantly with genetic testing. SHANK3-targeted therapies are under investigation.
How many clinical trials are available for Phelan-McDermid Syndrome?
RareWays currently indexes 16 clinical trials for Phelan-McDermid Syndrome, of which 3 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Phelan-McDermid Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.