Hong Kong Spinocerebellar Ataxias Registry

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 90
Healthy Volunteers: t
View:

• 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

Locations
Other Locations
Hong Kong Special Administrative Region
Prince of Wales Hospital
RECRUITING
Hong Kong
Contact Information
Primary
Anne YY CHAN
yychananne@gmail.com
(852) 3505 1855
Backup
Yixun HAN
elyiahan@cuhk.edu.hk
(852) 2697 5027
Time Frame
Start Date: 2012-12-07
Estimated Completion Date: 2034-12-31
Participants
Target number of participants: 300
Sponsors
Leads: Chinese University of Hong Kong

This content was sourced from clinicaltrials.gov

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