Neuro-Degenerative DiseaseNCT03322306
Establishment of Genetic Basis for Neurological Disease by Genetic Screening
An observational study of Neuro-Degenerative Disease, run by Chinese University of Hong Kong at 1 site in Hong Kong.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Neuro-Degenerative Disease
- What is being tested?
- Genechip screening kit
- How many people
- 200 participants
- Where
- 1 siteHong Kong
- Study dates
- 16 Nov 2012to 31 Dec 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Subjects who have presumed hereditary neurological disease
Who may be able to join
- Individuals at age 18 years or older who have presumed hereditary neurological disease.
- Individuals or his/her guardian who can provide the informed consent.
Who cannot join
- Individuals who are allergic to local anesthetics.
- Individuals who have serious medical conditions that restrict their ability to tolerate skin biopsy.
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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
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.
Read the 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.
- Conditions
- Neuro-Degenerative Disease
- Being tested
- Genechip screening kit
- Keywords
- genetic screening, neuro-degenerative disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genechip screening kitGenetic
10 ml blood for genetic screening by specific genetic screening kit
What is being measured
The primary outcome is the main question the study is designed to answer.
Specific genetic mutation
Able to identify disease-specific genetic mutation
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Oct 2017
- Study start16 Nov 2012
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuro-Degenerative DiseaseStudies of the same condition, open and under way.
- More trials run by Chinese University of Hong KongThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chinese University of Hong Kong
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dr. Anne YY CHAN, Chinese University of Hong Kong
- Investigators
- Anne CHAN, Principal investigator, Chinese University of Hong Kong
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03322306
- Sponsor's protocol ID
- iPS gene study CRE-2012.361
- Status last verified
- Aug 2024
- First submitted
- 23 Oct 2017
- Last updated
- 27 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT03322306
- Acronym / sponsor ID
- iPS gene study CRE-2012.361
- Conditions
- Neuro-Degenerative Disease
- Keywords
- genetic screening, neuro-degenerative disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Chinese University of Hong KongUniversity, hospital or other
- Study start
- 16 Nov 2012 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 26 Oct 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Subjects who have presumed hereditary neurological disease
Key inclusion criteria (2 listed)
- Individuals at age 18 years or older who have presumed hereditary neurological disease.
- Individuals or his/her guardian who can provide the informed consent.
Key exclusion criteria (3 listed)
- Individuals who are allergic to local anesthetics.
- Individuals who have serious medical conditions that restrict their ability to tolerate skin biopsy.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genechip screening kit10 ml blood for genetic screening by specific genetic screening kit | Genetic | – |
Primary outcome
Specific genetic mutation
Time frame: 1 year
Able to identify disease-specific genetic mutation
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Anne CHAN principal investigator
Chinese University of Hong Kong
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuro-Degenerative Disease, run by Chinese University of Hong Kong at 1 site in Hong Kong.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 27 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Hong Kong. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Specific genetic mutation (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Aug 2024.