Fragile X Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Targeting autophagy for postsynaptic organization and cognitive rescue in Fragile X syndrome.
Keyser Cameron et al. — Neural regeneration research (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/41641773/
- 2.
Neonatal expression of human FMRP isoform corrects cortical deficits and improves behavior in a mouse model of fragile X syndrome.
Norman Anna O et al. — Molecular therapy. Nucleic acids (8 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42389555/
- 3.
Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype.
Harold Roslyn et al. — Neurobiology of disease (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42155640/
- 4.
Autonomic Function in Fragile X Syndrome: A Systematic Review.
Weissgold Sydni et al. — Journal of intellectual disability research : JIDR (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42028919/
- 5.
FMRP-Mediated Proteasome Regulation: A Novel Mechanism in ALS Pathology.
Majumder Pritha et al. — FASEB journal : official publication of the Federation of American Societies for Experimental Biology (15 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42363684/
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
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 98 clinical trials for Fragile X Syndrome, of which 18 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.