Understanding the progression of Sialidosis Type I

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on Sialidosis Type I, a rare genetic disorder caused by mutations in the NEU1 gene. It aims to assess the neurological and ophthalmological status of affected patients through comprehensive examinations every six months, including clinical, neurological, and ophthalmological assessments, as well as neuropsychological, blood, radiological, and electrophysiological tests. By tracking the natural history of the disease, the study seeks to characterize clinical and laboratory abnormalities associated with Sialidosis Type I.

Why it matters

Who can join: the full rules

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

Where it's running

• National Taiwan University Hospital
  Taipei, Taipei, Taiwan Recruiting

Study contacts

• Study coordinator: Chin-Hsien Lin, MD, PhD
• Email: chlin@ntu.edu.tw
• Phone: 886-2-23123456

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.