Establishment of Genetic Basis for Neurological Disease by Genetic Screening

NCT03322306 | Enrolling By Invitation

• 1 other identifier: iPS gene study CRE-2012.361
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Neuro-Degenerative Disease

Keywords

genetic screening; neuro-degenerative disease

Outcome Measures

Primary Outcomes (1)

• Specific genetic mutation

  Able to identify disease-specific genetic mutation

  1 year

Interventions

Genechip screening kit GENETIC

10 ml blood for genetic screening by specific genetic screening kit

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Subjects who have presumed hereditary neurological disease

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Chinese University of Hong Kong: lead

Study Sites (1)

Prince of Wales Hospital

Hong Kong, Shatin, 000, Hong Kong

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood and skin sample will be saved for genetic test

Study Officials

• Anne CHAN

  Chinese University of Hong Kong

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Consultant

Study Record Dates

• First Submitted: October 23, 2017
• First Posted: October 26, 2017
• Study Start: November 16, 2012
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: August 27, 2024

Record last verified: 2024-08

Data Sharing

• IPD Sharing: Will not share

Locations

HK (1)