An observational study in Spinocerebellar Ataxia, sponsored by Chinese University of Hong Kong. Recruiting at 1 site in Hong Kong. Open to participants aged 18 Years to 90 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-08-27.
Sponsored by Chinese University of Hong Kong · Observational
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.
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.
SCA association members or SCA subjects who follow-up in our clinic or refer from other clinic
Exclusion Criteria:
No intervention but clinical assessement for all recruited subjects
Scale for the assessment and rating of ataxia (SARA) score
Scale for the assessment and rating of ataxia (total score 0-40)
Time frame: change from baseline to 2-year follow up
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)
Time frame: change from baseline to 2-year follow up
Patient Health Questionnaire-9 (PHQ-9)
Depression scale (0-4 in each items)
Time frame: change from baseline to 2-year follow up
Plan to share: No
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Chinese University of Hong Kong