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Trial record 5 of 122 for:    "spinocerebellar ataxia type 2" OR "Spinocerebellar Ataxias"

Hong Kong Spinocerebellar Ataxias Registry (HK_SCA_Reg)

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ClinicalTrials.gov Identifier: NCT03336008
Recruitment Status : Recruiting
First Posted : November 8, 2017
Last Update Posted : November 8, 2017
Sponsor:
Information provided by (Responsible Party):
Dr. Anne YY CHAN, Chinese University of Hong Kong

Brief 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.

Condition or disease Intervention/treatment
Spinocerebellar Ataxia Other: no intervention

Detailed Description:

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.


Study Type : Observational [Patient Registry]
Estimated Enrollment : 70 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Official Title: Hong Kong Spinocerebellar Ataxias Registry
Actual Study Start Date : December 7, 2012
Estimated Primary Completion Date : December 31, 2018
Estimated Study Completion Date : December 31, 2018



Intervention Details:
  • Other: no intervention
    No intervention but clinical assessement for all recruited subjects


Primary Outcome Measures :
  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 Outcome Measures :
  1. Unified Huntington's Disease Rating Scale IV [ Time Frame: change from baseline to 2-year follow up ]
    UHDRS assess functional capacity in SCA subjects (0-4 in each items)

  2. 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)

  3. Patient Health Questionnaire-9 (PHQ-9) [ Time Frame: change from baseline to 2-year follow up ]
    Depression scale (0-4 in each items)



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Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
SCA association members or SCA subjects who follow-up in our clinic or refer from other clinic
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


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03336008


Contacts
Contact: Anne YY CHAN (852) 3505 3877 yychananne@gmail.com
Contact: Roxanna LIU (852) 3505 3877 roxannaliu@gmail.com

Locations
Hong Kong
Prince of Wales Hospital Recruiting
Hong Kong, Shatin, Hong Kong, 000
Contact: Anne YY CHAN    (852) 3505 3877    yychananne@gmail.com   
Contact: Roxanna LIU    (852) 3505 3877    roxannaliu@gmail.com   
Principal Investigator: Anne YY CHAN         
Sponsors and Collaborators
Chinese University of Hong Kong
Investigators
Principal Investigator: Anne YY CHAN Chinese University of Hong Kong

Responsible Party: Dr. Anne YY CHAN, Associate Consultant, Chinese University of Hong Kong
ClinicalTrials.gov Identifier: NCT03336008     History of Changes
Other Study ID Numbers: HK_SCA_Registry
First Posted: November 8, 2017    Key Record Dates
Last Update Posted: November 8, 2017
Last Verified: November 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Ataxia
Cerebellar Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn