Establishment of Genetic Basis for Neurological Disease by Genetic Screening
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|ClinicalTrials.gov Identifier: NCT03322306|
Recruitment Status : Recruiting
First Posted : October 26, 2017
Last Update Posted : January 31, 2019
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|
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.
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|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|
- Genetic: Genechip screening kit
10 ml blood for genetic screening by specific genetic screening kit
- Specific genetic mutation [ Time Frame: 1 year ]Able to identify disease-specific genetic mutation
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03322306
|Contact: Yixun HAN||852 email@example.com|
|Contact: Anne CHAN||852 firstname.lastname@example.org|
|Prince of Wales Hospital||Recruiting|
|Hong Kong, Shatin, Hong Kong, 000|
|Contact: Anne YY CHAN (852) 3505 3856 email@example.com|
|Contact: Yixun HAN (852) 2697 5027 firstname.lastname@example.org|
|Principal Investigator: Anne YY CHAN|
|Principal Investigator:||Anne CHAN||Chinese University of Hong Kong|