The Natural History of Sialidosis Type I

NCT06316752 | Recruiting

• 1 other identifier: 202107158RINB
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Observational Study

Keywords

sialidosis; NEU1 gene; Natural history

Outcome Measures

Primary Outcomes (2)

• 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.

  every 6 months up to 1 year

• 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.

  every 6 months up to 1 year

Secondary Outcomes (5)

• MRI of the brain

  every 1 year

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

  every year

• Electrophysyiology test on peripheral nerves

  every year

• Opathalmology examinations for cherry-red spots

  every year

• Montreal cognitive assessment score

  every year

Study Arms (1)

Patients with sialidosis type 1

Patients with a definite diagnosis of this disease are candidates for this study.

Other: Observational study

Interventions

Observational study OTHER

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.

Patients with sialidosis type 1

Eligibility Criteria

• Age: 12 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

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

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

National Taiwan University Hospital

Taipei, Taipei, 100, Taiwan

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

A maximum of 10ml of blood will be drawn from recruited patient. DNA will be extracted and the plasma will be retained for possible use in the future studies.

MeSH Terms

Conditions

Mucolipidoses

Interventions

Observation

Condition Hierarchy (Ancestors)

Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Central Study Contacts

Chin-Hsien Lin, MD, PhD

CONTACT

886-2-23123456; chlin@ntu.edu.tw

Wuh-Liang Hwu, MD, PhD

CONTACT

886-2-23123456

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: February 26, 2024
• First Posted: March 18, 2024
• Study Start: March 15, 2022
• Primary Completion (Estimated): December 16, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: May 20, 2025

Record last verified: 2025-05

Locations

TW (1)