Actively Recruiting
The Natural History of Sialidosis Type I
Led by National Taiwan University Hospital · Updated on 2025-05-20
30
Participants Needed
1
Research Sites
250 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
The Natural History of Sialidosis Type I
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetic diagnosis of sialidosis type I
- Able to tolerate a general exam and neurological exam
- Able to tolerate a modest amount of blood drawing
- Able to tolerate the complete electrophysiological studies
- Able to tolerate the performance of electroencephalogram and brain MRI
- Able to tolerate a neuropsychological testing and opathalmology evaluation
You will not qualify if you...
- Patients who cannot tolerate the scheduled examinations and blood drawing
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
National Taiwan University Hospital
Taipei, Taipei, Taiwan, 100
Actively Recruiting
Research Team
C
Chin-Hsien Lin, MD, PhD
CONTACT
W
Wuh-Liang Hwu, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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