NCT06316752 The Natural History of Sialidosis Type I
| NCT ID | NCT06316752 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Taiwan University Hospital |
| Condition | Observational Study |
| Study Type | OBSERVATIONAL |
| Enrollment | 30 participants |
| Start Date | 2022-03-15 |
| Primary Completion | 2026-12-16 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 30 participants in total. It began in 2022-03-15 with a primary completion date of 2026-12-16.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 Criteria
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
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06316752 clinical trial?
This trial is open to participants of all sexes, aged 12 Years or older, up to 80 Years, studying Observational Study. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06316752 currently recruiting?
Yes, NCT06316752 is actively recruiting participants. Contact the research team at chlin@ntu.edu.tw for enrollment information.
Where is the NCT06316752 trial being conducted?
This trial is being conducted at Taipei, Taiwan.
Who is sponsoring the NCT06316752 clinical trial?
NCT06316752 is sponsored by National Taiwan University Hospital. The trial plans to enroll 30 participants.