Hong Kong Spinocerebellar Ataxias Registry

Launched by CHINESE UNIVERSITY OF HONG KONG · Nov 7, 2017

Keywords

ClinConnect Summary

The Hong Kong Spinocerebellar Ataxias Registry is a clinical trial aimed at better understanding spinocerebellar ataxias (SCAs), which are genetic disorders that affect coordination and balance. The most common types of SCA in Hong Kong are SCA3 and SCA2. Through this study, researchers hope to gather important clinical and genetic information from patients who have been diagnosed with these conditions. This information will help in developing effective treatments in the future.

To participate in this study, individuals must be at least 18 years old and show signs of ataxia, which is a loss of coordination. They should also have a confirmed genetic diagnosis of SCA1, 2, 3, 6, 7, 8, or 12 in themselves or a family member. Participants will have the opportunity to contribute to a registry that collects valuable data and samples, which could lead to breakthroughs in understanding and treating SCAs. If you or a loved one are interested in participating, it's important to have a discussion with a healthcare provider to see if you meet the eligibility criteria.

Gender

ALL

Eligibility criteria

• 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