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The Natural History of Sialidosis Type I

ConditionObservational Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age12-80
SponsorNational Taiwan University Hospital

About this trial

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

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

Patients who cannot tolerate the scheduled examinations and blood drawing

Trial population

Patieints who have a definitive diagnosis of sialidosis type I based on genetic test

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Observational study

    Other intervention

    It is an observational study involving non-invasive routine examinations without treatment, thus posing no additional risk to patients. This project does not involve the use of medications, medical techniques, or the market status of medical equipment.

Treatment groups

30 Participants
are divided into 1 treatment group
Group A: Patients with sialidosis type 11 intervention

Trial outcomes

Primary outcomes

1

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.

Time frame
every 6 months up to 1 year
2

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.

Time frame
every 6 months up to 1 year

Secondary outcomes

1

MRI of the brain

brain structure evaluation using T2 weighted images on 3T scanner

Time frame
every 1 year
2

Blood test for alpha-N -acetyl neuraminidase activity and neruofilamment light chain

Blood biomarkers to reflect the disease severity of the disease progression

Time frame
every year
3

Electrophysyiology test on peripheral nerves

Evaluate the peripheral nerve conduction velocity.

Time frame
every year
4

Opathalmology examinations for cherry-red spots

Evaluate the existence of cherry red spot

Time frame
every year

Other outcomes

Locations

1

Map coordinates are unavailable for these locations. Locations are shown below instead.

National Taiwan University HospitalRecruiting100, Taipei, TaipeiTaiwanTaiwan

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

National Taiwan University Hospital

Lead sponsor

Source ClinicalTrials.gov
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