Fragile X Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 10 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Elevated gamma spectral event peak power during auditory chirp is associated with neuropsychiatric features in Fragile X syndrome.
Liu Yanchen et al. — Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41763092/
- 2.
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Reynolds Giuseppe et al. — American journal of medical genetics. Part A (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41392699/
- 3.
Single-cell transcriptomics reveals FXR1 as an actionable target for siRNA therapy in ovarian cancer.
George Jasmine et al. — Nature communications (3 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41932914/
- 4.
Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome
Bourgeois J et al. (3 April 2026)
https://europepmc.org/search?query=Comprehensive%2C%20multidisciplinary%20care%20for%20fragile%20
- 5.
Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.
Hourani Shaima M et al. — Journal of neurodevelopmental disorders (2 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41923202/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
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.
Fragile X Syndrome
Fragile X syndrome is the most common inherited cause of intellectual disability and the leading single-gene cause of autism spectrum disorder, caused by expansion of a CGG repeat in the FMR1 gene. It affects males more severely than females. Research is focused on mGluR5 pathway modulation and gene reactivation strategies.
Most Recent Research
OBJECTIVE: Investigate transient, non-averaged electroencephalography (EEG) signals in the gamma frequency band during an auditory chirp paradigm in individuals with Fragile X syndrome (FXS), a population characterized by elevated background gamma power, and to assess their relationship with clinical features. METHODS: Source-localized EEG responses to auditory chirp stimulus were studied in 36 individuals with FXS and 39 typically developing controls (TDC). Transient high-power gamma-band events were extracted using a thresholding approach. Gamma event properties were compared between groups and correlated with mean EEG features and clinical measures. RESULTS: In male FXS subjects, gamma event peak power was increased in the temporal source and lacked correlation with inter-trial coherence (ITC). Event rate, duration, and frequency span were similar between groups. Event peak power was positively correlated with obsessive and stereotyped behavior scales. CONCLUSIONS: Peak power of transient gamma events during auditory response is tonically elevated, dissociated from phase synchronization, and associated with neuropsychiatric features in FXS. SIGNIFICANCE: Identifying a tonic elevation of gamma event peak power in FXS during auditory processing suggests altered neural circuit mechanisms underlying aberrant gamma activity. This provides a more direct basis for understanding auditory hypersensitivity, fostering opportunities for back translation and targeted treatment development.
Common Questions
What is Fragile X Syndrome?
Fragile X syndrome is the most common inherited cause of intellectual disability and the leading single-gene cause of autism spectrum disorder, caused by expansion of a CGG repeat in the FMR1 gene. It affects males more severely than females. Research is focused on mGluR5 pathway modulation and gene reactivation strategies.
How many clinical trials are available for Fragile X Syndrome?
RareWays currently indexes 97 clinical trials for Fragile X Syndrome, of which 17 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Fragile X 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.