The Natural History of Sialidosis Type I
National Taiwan University Hospital
30 participants
Mar 15, 2022
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria7
- Subjects must:
- 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
Exclusion Criteria1
- Patients who cannot tolerate the scheduled examinations and blood drawing
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Interventions
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)
View Full Details on ClinicalTrials.gov
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NCT06316752