ClinicalTrials.gov record NCT03336008

Hong Kong Spinocerebellar Ataxias Registry

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Hong Kong Spinocerebellar Ataxias Registry

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Aug 27, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age18 years old and older
SexAll
LocationHong Kong
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Creates the first Hong Kong registry and biobank for spinocerebellar ataxias to collect clinical and genetic information and store serum and fibroblasts. It enrolls people with spinocerebellar ataxia, including those with genetic confirmation of SCA1, 2, 3, 6, 7, 8, or 12 and affected relatives. Participants receive baseline and annual neurological exams, ataxia rating (SARA), timed walking tests, questionnaires, genotyping if needed, and sample collection, with two-year follow-up.

What it is studying. To create a Hong Kong SCA registry and biorepository and to document clinical features and how they change over two years, using measures such as the SARA ataxia score, EQ-5D health questionnaire, PHQ-9 depression score, and timed walking tests.

What the researchers hope to learn. Establish the first Hong Kong SCA registry and biobank; collect and store clinical and genetic data plus serum and fibroblast samples; describe clinical manifestations and disease course; measure change in SARA, EQ-5D, and PHQ-9 from baseline to two years to support research into disease mechanisms and future treatments.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • no intervention

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

After giving informed consent, participants will have genotype confirmation and a detailed clinical history taken. They will undergo a neurological exam focused on eye movements, complete the SARA ataxia scale, do a timed 25-foot walk, and fill in health and mood questionnaires (EQ-5D, PHQ-9). Blood and fibroblast samples may be collected and stored in a biorepository. Annual follow-up visits for two years will repeat exams and questionnaires; no study treatment is given.

How the study is structured. A prospective, observational cohort registry with no experimental treatment. Participants have baseline assessments (neurological exam, SARA, timed 25-foot walk, EQ-5D, PHQ-9), genotyping when required, and collection of serum and fibroblast samples. Annual follow-up visits are planned for two years to repeat assessments.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Hong Kong. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on spinocerebellar ataxia

Clinical trials30 trials listed for spinocerebellar ataxiaEvery trial the registry lists for spinocerebellar ataxia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in spinocerebellar ataxia researchLatest monthly update: September 2026. Includes: NBP trial result. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Dec 7, 2012
Primary completion
Dec 31, 2034 (estimated)
Study completion
Dec 31, 2034 (estimated)
Target enrollment
300 participants (estimated)
Last updated on registry
Aug 27, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Chinese University of Hong Kong
Principal investigator
Dr. Anne YY CHAN, Associate Consultant
Chinese University of Hong Kong

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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