Understanding the progression of Sialidosis Type I
The Natural History of Sialidosis Type I
National Taiwan University Hospital · NCT06316752
This study is trying to understand how Sialidosis Type I affects people by checking their brain and eye health regularly to see how the condition changes over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 12 Years to 80 Years |
| Sex | All |
| Sponsor | National Taiwan University Hospital (other) |
| Locations | 1 site (Taipei, Taipei) |
| Trial ID | NCT06316752 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a genetic diagnosis of Sialidosis Type I who can tolerate the required examinations and tests.
Not a fit: Patients who cannot tolerate the scheduled examinations and blood drawing may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression of Sialidosis Type I, potentially leading to improved management and treatment strategies for patients.
How similar studies have performed: While there may be limited studies on Sialidosis Type I specifically, observational studies on rare genetic disorders have shown success in understanding disease progression and informing treatment approaches.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Taipei, Taipei
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Observational Study, sialidosis, NEU1 gene, Natural history