Ignite Creation Date:
2025-12-26 @ 2:39 PM
Ignite Modification Date:
2025-12-31 @ 1:17 PM
Study NCT ID:
NCT03322306
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2024-08-27
First Post:
2017-10-23
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Establishment of Genetic Basis for Neurological Disease by Genetic Screening
Sponsor:
Chinese University of Hong Kong
Organization:
Study Overview
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
Status:
ENROLLING_BY_INVITATION
Status Verified Date:
2024-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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.
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.
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.
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 Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: