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NCT06316752

The Natural History of Sialidosis Type I

Recruiting now Last updated 20 May 2025
What this trial tests

trial testing Observational study in Observational Study in 30 participants. Currently enrolling.

Timeline
15 March 2022
Primary endpoint
16 December 2026
31 December 2026

Quick facts

Lead sponsorNational Taiwan University Hospital
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment30
Start date15 March 2022
Primary completion16 December 2026
Estimated completion31 December 2026
Sites1 location across Taiwan

Drugs / interventions tested

Conditions studied

Sponsor

National Taiwan University Hospital

Who can join

Adults 12 to 80, any sex, with Observational Study. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Sialidosis type 1 is an autosomal recessive disorder caused by bialleic NEU1 gene mutations. Patients with sialidosis type I present variable neurological and eye dysfunction and the progression rate is variable. The goal of this protocol is to assess the neurological and ophthalmological status of these patients and characterize the clinical and laboratory abnormalities in order to determine the natural history of the disease. Patients will be followed every 6 month with comprehensive clinical, neurological and ophthalmological examinations combined with neuropsychological, blood, radiological and electrophysiological tests.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.
    Gburek-Augustat J, Lee IC, Rubino M, Topçu V, et al · · 2026 · PMID 41665440 · DOI 10.1002/epi4.70233

Verify or expand the search:

Other trials of Observational study

Trials testing the same drug.

Other recruiting trials for Observational Study

Currently open trials in the same condition.

Other National Taiwan University Hospital trials

Trials by the same sponsor.

Verify against primary sources

Data sources for this page

Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT06316752.

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