Hong Kong Spinocerebellar Ataxias Registry

NCT03336008 | Recruiting

• 1 other identifier: HK_SCA_Registry
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

Spinocerebellar ataxias (SCA) 1, 2, 3 and 6 are the most common, autosomal dominantly inherited cerebellar degenerations. And in the Chinese population, the most common SCA is SCA3 and the frequency of SCA 3 among SCA patients is 72.5%, followed by SCA 2 that the frequency is 12% among SCA patients. For SCA 1, the frequency among SCA patients is 7%. Even SCAs are rare diseases, a significant amount of Chinese in Hong Kong still suffer from this disorders. SCA Association in Hong Kong has 88 members who are suffering from spinocerebellar degeneration, many of them have a genetic confirmation. As there are few treatments for SCAs; therefore, understanding SCAs clinical manifestation and disease mechanisms are the first step towards development of effective treatment. The objective of this study is to develop the first SCA registry in Hong Kong with bio-repository bank for clinical and genetic information as well as serum and fibroblasts.

Conditions

Spinocerebellar Ataxia

Outcome Measures

Primary Outcomes (1)

• Scale for the assessment and rating of ataxia (SARA) score

  Scale for the assessment and rating of ataxia (total score 0-40)

  change from baseline to 2-year follow up

Secondary Outcomes (2)

• EQ5D Health questionnaire

  change from baseline to 2-year follow up

• Patient Health Questionnaire-9 (PHQ-9)

  change from baseline to 2-year follow up

Interventions

no intervention OTHER

No intervention but clinical assessement for all recruited subjects

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

SCA association members or SCA subjects who follow-up in our clinic or refer from other clinic

You may qualify if:

• Age 18 years and above
• Presence of symptoms and signs of ataxia
• Definite molecular diagnosis of SCA1, 2, 3, 6, 7, 8 or 12 either in the participant or another affected family member
• Willingness to participate in the study and ability to give informed consent

You may not qualify if:

• \. Known recessive. X-linked, and mitochondrial ataxias

Sponsors & Collaborators

• Chinese University of Hong Kong: lead

Study Sites (1)

Prince of Wales Hospital

Hong Kong, Shatin, 000, Hong Kong

RECRUITING

MeSH Terms

Conditions

Spinocerebellar Ataxias

Condition Hierarchy (Ancestors)

Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Anne YY CHAN

  Chinese University of Hong Kong

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anne YY CHAN

CONTACT

(852) 3505 1855; yychananne@gmail.com

Yixun HAN

CONTACT

(852) 2697 5027; elyiahan@cuhk.edu.hk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Consultant

Study Record Dates

• First Submitted: September 29, 2017
• First Posted: November 8, 2017
• Study Start: December 7, 2012
• Primary Completion (Estimated): December 31, 2034
• Study Completion (Estimated): December 31, 2034
• Last Updated: August 27, 2024

Record last verified: 2024-08

Data Sharing

• IPD Sharing: Will not share

Locations

HK (1)