Skip to main content
OpenTrials
Recruiting

NCT Number: NCT03336008

Hong Kong Spinocerebellar Ataxias Registry

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

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

Age range

18 year–90 year

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • Known recessive. X-linked, and mitochondrial ataxias

Treatment and study plan

No intervention

Other

No intervention but clinical assessement for all recruited subjects

Primary outcomes

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

    Time frame: change from baseline to 2-year follow up

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

Secondary outcomes

  1. EQ5D Health questionnaire

    Time frame: change from baseline to 2-year follow up

    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)

  2. Patient Health Questionnaire-9 (PHQ-9)

    Time frame: change from baseline to 2-year follow up

    Depression scale (0-4 in each items)

Study contacts

Contact information is provided by the study sponsor or research team.

Anne YY CHAN

CONTACT

[email protected]

(852) 3505 1855

Yixun HAN

CONTACT

[email protected]

(852) 2697 5027

Sponsors and collaborators

Lead sponsor

Chinese University of Hong Kong

Other

Registry information

Acronym: HK_SCA_Reg

Important dates

Study start
2012
Primary completion
2034
Study completion
2034
First posted
Nov 8, 2017
Registry last updated
Aug 27, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.