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
2 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Sialidosis type I is a rare inherited disorder caused by mutations in the NEU1 gene, leading to a deficiency of the enzyme sialidase. This causes harmful buildup of certain substances in cells, resulting in neurological and eye problems that worsen at variable rates. The study aims to observe and map the natural progression of sialidosis type I by assessing clinical and laboratory features over time. Participants diagnosed with sialidosis type I will be followed in this observational study without receiving any treatment. Every six months, they will undergo detailed physical, neurological, and eye exams, along with cognitive and gait assessments. Blood and urine tests, brain wave recordings, and myoclonus evaluations are also part of the examinations. Annually, brain MRI scans and nerve tests will be performed to monitor changes. Throughout the 24-month study, participants will be evaluated every six months using scales measuring ataxia and myoclonus. Additional yearly tests include blood enzyme activity, electrophysiological studies, eye exams for cherry-red spots, and cognitive assessments. The study collects biological samples for future research and tracks medication use and responses. The goal is to identify markers of disease progression and improve clinical management.
CONDITIONS
Brief 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 blood drawing
- Able to tolerate complete electrophysiological studies
- Able to tolerate electroencephalogram and brain MRI
- Able to tolerate neuropsychological testing and ophthalmology evaluation
You will not qualify if you...
- Cannot tolerate the scheduled examinations and blood drawing
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 24 months
Participants undergo non-invasive routine examinations every 6 months including physical and neurological exams, blood and urine tests, brain wave recording, eye exams, cognitive tests, gait analysis, and myoclonus evaluation to track disease progression.
Visits every 6 months for a total of 5 visits
Duration - 24 months
Participants receive brain MRI without contrast, visual and somatosensory evoked potentials, nerve conduction studies, and nerve excitability tests annually to assess neurological status.
Annual visits for 2 visits
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
W
Wuh-Liang Hwu, MD, PhD
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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