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The Natural History of Sialidosis Type I

NCT06316752 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2025-05-20

No results posted yet for this study

Summary

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.

Conditions

  • Observational Study

Interventions

OTHER

Observational study

It is an observational study involving non-invasive routine examinations without treatment, thus posing no additional risk to patients. This project does not involve the use of medications, medical techniques, or the market status of medical equipment.

Sponsors & Collaborators

  • National Taiwan University Hospital

    lead OTHER

Eligibility

Min Age
12 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-15
Primary Completion
2026-12-16
Completion
2026-12-31

Countries

  • Taiwan

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06316752 on ClinicalTrials.gov