RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Tay-Sachs Disease: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Corrigendum to "Activation of ABCC1 transporter ameliorates synaptic dysregulation in Tay-Sachs disease neuron" [Neurobiol. Dis. 216 (2025) 107099].
Zhang Yumeng et al., Neurobiology of disease (5 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42833941/
- 2.
Accuracy of Tay-Sachs Disease Responses from the Pediatric Rare Diseases Knowledge Hub
Summer Boltz et al. (17 September 2026)
https://doi.org/10.13140/rg.2.2.34333.06888
- 3.
Cerebrospinal delivery of a bidirectional AAV9 vector improves optic nerve and retinal pathology in a sheep model of Tay-Sachs disease.
Story Brett D et al., Molecular therapy : the journal of the American Society of Gene Therapy (2 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42281208/
- 4.
Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.
Frezatti Rodrigo Siqueira Soares et al., Journal of the peripheral nervous system : JPNS (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42466981/
- 5.
Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases.
Lewis Connor J et al., Journal of neurology (3 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42547667/
Clinical Trials : Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
NCT07054515 · Recruiting · Phase 3 · Azafaros B.V.
Ages 4 and over
https://clinicaltrials.gov/study/NCT07054515
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.
Tay-Sachs Disease
Tay-Sachs Disease is a rare inherited lysosomal storage disorder caused by mutations in the HEXA gene, resulting in the toxic accumulation of gangliosides in nerve cells. The infantile form is typically fatal by age 5; late-onset forms present in adolescence or adulthood. Carrier screening in at-risk populations (Ashkenazi Jewish, French-Canadian) has dramatically reduced incidence.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is Tay-Sachs Disease?
Tay-Sachs Disease is a rare inherited lysosomal storage disorder caused by mutations in the HEXA gene, resulting in the toxic accumulation of gangliosides in nerve cells. The infantile form is typically fatal by age 5; late-onset forms present in adolescence or adulthood. Carrier screening in at-risk populations (Ashkenazi Jewish, French-Canadian) has dramatically reduced incidence.
How many clinical trials are available for Tay-Sachs Disease?
RareWays currently indexes 14 clinical trials for Tay-Sachs Disease, of which 2 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Tay-Sachs Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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