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The Natural History of Sialidosis Type I
Sponsor: National Taiwan University Hospital
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.
Key Details
Gender
All
Age Range
12 Years - 80 Years
Study Type
OBSERVATIONAL
Enrollment
30
Start Date
2022-03-15
Completion Date
2026-12-31
Last Updated
2025-05-20
Healthy Volunteers
No
Conditions
Interventions
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.
Locations (1)
National Taiwan University Hospital
Taipei, Taipei, Taiwan