Hong Kong Spinocerebellar Ataxias Registry (HK_SCA_Reg)

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.

Study Overview

• Status: Recruiting
• Conditions: Spinocerebellar Ataxia
• Intervention / Treatment: Other: no intervention

Detailed Description

All the members from Hong Kong SCA association will be invited and discuss the study with them. After obtaining the informed consent, their genotypes will be determined and collect clinical information. Some of the participant will have clear genotyping via Department of Health. Participants with a genetic confirmation of SCA1, 2, 3, 6, 7, 8 and 12 genes will be included in the study. The relatives of genetically confirmed participants, who also had ataxic symptoms, might be included in the study without further determination of the genotypes.

Detailed clinical history including age of onset, clinical symptoms will be collected. A detailed neurological examination with an emphasis of eye movements (such as pursuit, saccadic, and convergence eye movements). We will also perform SARA scale, a validated ataxia scale. Timed 25 foot-walk test will be performed.

Two-year annual follow-up will be arranged for recruited subject for neurological physical examination, SARA scale, in order to continue assessment for any progress change in disease stage.

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Anne YY CHAN; Phone Number: (852) 3505 1855; Email: yychananne@gmail.com
• Study Contact Backup: Name: Yixun HAN; Phone Number: (852) 2697 5027; Email: elyiahan@cuhk.edu.hk

Study Locations

• Hong Kong
  • Shatin
    • Hong Kong, Shatin, Hong Kong, 000
      • Recruiting
      • Prince of Wales Hospital
      • Contact: Anne YY CHAN; Phone Number: (852) 3505 1855; Email: yychananne@gmail.com
      • Contact: Yixun HAN; Phone Number: (852) 2697 5027; Email: elyiahan@cuhk.edu.hk
      • Principal Investigator: Anne YY CHAN

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 90 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

1. Known recessive. X-linked, and mitochondrial ataxias

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
EQ5D Health questionnaire	EQ-5D is a standardized instrument for measuring generic health status. The health status measured with EQ-5D is used for estimating preference weight for that health status (1-3 in each health status , 0-100 in general today's health status)	change from baseline to 2-year follow up
Patient Health Questionnaire-9 (PHQ-9)	Depression scale (0-4 in each items)	change from baseline to 2-year follow up

Collaborators and Investigators

• Sponsor: Chinese University of Hong Kong
• Investigators: Principal Investigator: Anne YY CHAN, Chinese University of Hong Kong

Study record dates

Study Major Dates

• Study Start (Actual): December 7, 2012
• Primary Completion (Estimated): December 31, 2034
• Study Completion (Estimated): December 31, 2034

Study Registration Dates

• First Submitted: September 29, 2017
• First Submitted That Met QC Criteria: November 7, 2017
• First Posted (Actual): November 8, 2017

Study Record Updates

• Last Update Posted (Actual): August 27, 2024
• Last Update Submitted That Met QC Criteria: August 25, 2024
• Last Verified: August 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neurodegenerative Diseases; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Cerebellar Diseases; Ataxia; Cerebellar Ataxia; Spinocerebellar Ataxias; Spinocerebellar Degenerations
• Other Study ID Numbers: HK_SCA_Registry

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No