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Establishment of Genetic Basis for Neurological Disease by Genetic Screening

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03322306
Recruitment Status : Recruiting
First Posted : October 26, 2017
Last Update Posted : January 31, 2019
Information provided by (Responsible Party):
Dr. Anne YY CHAN, Chinese University of Hong Kong

Brief Summary:

Hereditary neurological disorders are relatively common in paediatric neurological practice, but it has considerable overlap with adult neurological disorders. It is a group of of genetic diseases, most of which with a Mendelian inheritance affecting neurological system. Pathogenic mechanisms of these diseases are not fully understood. There is currently no effective therapy for most of these diseases. Disease-specific and patient- specific iPS cells would provide useful source of cells in culture modeling in these diseases.

In this study, disease-specific iPS cell lines repositories from hereditary neurological disease patients will be established. The cell lines will be registered and make them available to other investigators.

Condition or disease Intervention/treatment
Neuro-Degenerative Disease Genetic: Genechip screening kit

Detailed Description:

The human iPS is generated by direct reprogramming of human somatic cells. These hiPS cells can give rise to most tissue types in the human embryo and possess many of the properties of human embryonic stem cells (hESC). The big advantage of human iPS cell over hESC is that it circumvents most of the limitations of hESC and remains the pluripotency for regeneration of cells and tissues. The unique capacity of self-renewal of iPS can provide unlimited supply of pluripotent stem cells for study. The patient-specific iPS cell lines should fundamentally eliminate the concern of immune rejection and ethical issues. The disease-specific iPS will facilitate the study of the mechanism of nucleotide expansion. It is the ideal medium to study the dynamic changes of the expansion from stem cell stage to different differentiation stages. It also creates a platform for drug development. The establishment of iPS stem cells will also make it realistic for target gene replacement/correction therapy.

Study subjects will be identified at the members from the Hong Kong Spinocerebellar ataxias (SCA) association and neurology clinic in Prince of Wales Hospital. Patients identify based on the diagnosis, genetic test results and inclusion and exclusion criteria.

10ml blood sample for genetic screening will be collected. Skin biopsy will only be scheduled if pathogenic mutation was identified by the genetic screening test and generation of iPS is considered necessary to study the pathogenic mechanism of the disease.

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Establishment of Genetic Basis for Neurological Disease by Genetic Screening and Development of Disease-specific Induced Pluripotent Stem (iPS) Cells From Dermal Fibroblasts in Selected Patients
Actual Study Start Date : November 16, 2012
Estimated Primary Completion Date : December 31, 2019
Estimated Study Completion Date : December 31, 2020

Resource links provided by the National Library of Medicine

Intervention Details:
  • Genetic: Genechip screening kit
    10 ml blood for genetic screening by specific genetic screening kit

Primary Outcome Measures :
  1. Specific genetic mutation [ Time Frame: 1 year ]
    Able to identify disease-specific genetic mutation

Biospecimen Retention:   Samples With DNA
Blood and skin sample will be saved for genetic test

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Subjects who have presumed hereditary neurological disease

Inclusion Criteria:

  1. Individuals at age 18 years or older who have presumed hereditary neurological disease.
  2. Individuals or his/her guardian who can provide the informed consent.

Exclusion Criteria:

  1. Individuals who are allergic to local anesthetics.
  2. Individuals who have serious medical conditions that restrict their ability to tolerate skin biopsy.
  3. Individuals who have history of bleeding diathesis or use of anticoagulant medications. Patients taking nonsteroidal anti-inflammatory agents will be asked to discontinue these medications 3 days prior to skin biopsy.

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 identifier (NCT number): NCT03322306

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Contact: Yixun HAN 852 26975027
Contact: Anne CHAN 852 35051855

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Hong Kong
Prince of Wales Hospital Recruiting
Hong Kong, Shatin, Hong Kong, 000
Contact: Anne YY CHAN    (852) 3505 3856   
Contact: Yixun HAN    (852) 2697 5027   
Principal Investigator: Anne YY CHAN         
Sponsors and Collaborators
Chinese University of Hong Kong
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Principal Investigator: Anne CHAN Chinese University of Hong Kong

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Responsible Party: Dr. Anne YY CHAN, Associate Consultant, Chinese University of Hong Kong Identifier: NCT03322306     History of Changes
Other Study ID Numbers: iPS gene study CRE-2012.361
First Posted: October 26, 2017    Key Record Dates
Last Update Posted: January 31, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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

Keywords provided by Dr. Anne YY CHAN, Chinese University of Hong Kong:
genetic screening
neuro-degenerative disease

Additional relevant MeSH terms:
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Nervous System Diseases
Neurodegenerative Diseases