The Natural History of Sialidosis Type I

Recruiting now

Conditions studied: Observational Study

In brief

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.

Key facts

Study ID

NCT06316752

Run by

National Taiwan University Hospital

People needed

30

Starts

2022-03-15

Expected to finish

2026-12-31

Last updated by the study team

2025-05-20

Who can join

Age: 12 and older, up to 80. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• Patients who cannot tolerate the scheduled examinations and blood drawing

Where it is running

• National Taiwan University Hospital — Taipei, Taipei, Taiwan (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.