Observational Study Clinical Trial
Official title:
The Natural History of Sialidosis Type I
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.
Status | Recruiting |
Enrollment | 30 |
Est. completion date | December 31, 2024 |
Est. primary completion date | March 16, 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 12 Years to 80 Years |
Eligibility | Inclusion Criteria: - 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 Criteria: - Patients who cannot tolerate the scheduled examinations and blood drawing |
Country | Name | City | State |
---|---|---|---|
Taiwan | National Taiwan University Hospital | Taipei |
Lead Sponsor | Collaborator |
---|---|
National Taiwan University Hospital |
Taiwan,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Scale for the Assessment and Rating of Ataxia (SARA) | SARA is a clinical scale that is based on a semi-quantitative assessment of cerebellar ataxia on an impairment level. It can also be used as a rehabilitation index of gait status and ADL independence in ataxic patients. The range of SARA scre is 0-40. The higer score means the worse status. | every 6 months up to 1 year | |
Primary | Unified Myoclonus Rating Scale (UMRS) | The UMRS score for each task is a multiplied measure of the myoclonus amplitude and frequency of the participant. The range of UMRS is 0-128. The higer score means the worse status. | every 6 months up to 1 year | |
Secondary | MRI of the brain | brain structure evaluation using T2 weighted images on 3T scanner | every 1 year | |
Secondary | Blood test for alpha-N -acetyl neuraminidase activity and neruofilamment light chain | Blood biomarkers to reflect the disease severity of the disease progression | every year | |
Secondary | Electrophysyiology test on peripheral nerves | Evaluate the peripheral nerve conduction velocity. | every year | |
Secondary | Opathalmology examinations for cherry-red spots | Evaluate the existence of cherry red spot | every year | |
Secondary | Montreal cognitive assessment score | Evaluate the cognitive function (the higher score means the better cognitive function) | every year |
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