Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
1 other identifier
observational
3,000
1 country
1
Brief Summary
Recent advances have shown that cells from human blood, skin and urine samples can be reprogrammed to become stem cells. These are called induced Pluripotent Stem Cells (iPSCs) and share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to become any cell in the body. Beneficially, the use of iPSCs avoids the ethical difficulties which surround embryonic stem cells and allows generation of iPSC lines which are disease representative. For example, we could take skin samples from an individual diagnosed with Huntington's disease and their unaffected sibling and using this technology, generate iPSC lines from both individuals. Using these iPSCs, we could produce disease affected cell populations from the affected and unaffected individuals, use these cells to research why specific cell populations are affected by disease and test new treatments to combat disease progression, essentially producing a 'disease in a dish'. This is just one example of many for which this technology could be applied. We can also utilise gene-editing techniques to generate isogenic controls or insert disease related mutations to assess disease phenotype. Although generation of iPSC lines has been robustly proven across multiple disease backgrounds, many aspects of their downstream use still remain to be determined. Particularly, robust protocols for directing iPSCs towards cell fates such as neurons or blood cells must be developed to fully realise application of iPSCs in disease modelling and drug screening. This study involves the collection of human blood, skin or urine samples from subjects bearing a range of genetic diseases alongside those from individuals who have not been diagnosed with a disease, as controls. These samples will be used to generate iPSC lines for development of differentiation and disease phenotyping protocols.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Nov 2018
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
June 15, 2018
CompletedFirst Posted
Study publicly available on registry
August 2, 2018
CompletedStudy Start
First participant enrolled
November 1, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 1, 2028
ExpectedStudy Completion
Last participant's last visit for all outcomes
July 1, 2028
May 13, 2026
May 1, 2026
9.7 years
June 15, 2018
May 11, 2026
Conditions
Outcome Measures
Primary Outcomes (1)
Number of disease relevant iPSC differentiation protocols generated within the study
The primary research question is to determine if and how we can use iPSCs to improve modelling of genetic diseases, particularly in generating iPSC-derived, disease relevant, tissue specific cell populations. Currently, research into the pathology and progression of genetic diseases and subsequent development of therapeutics is heavily dependent on the use of simplistic cell models and/or animal models which are poorly representative of the human disease. Although generation of iPSC lines has been observed across many disease backgrounds, a number of facets of their downstream use still remain to be determined. To fully exploit the possibilities of iPSCs, it is critical to develop differentiation protocols (that is, directing iPSCs to form populations of other cell types, such as neurons or cardiomyocytes) which are robust and reliable across multiple cell lines when performed in a high throughput manner.
2 years
Interventions
Participant will meet clinician in a suitable local clinical setting, in select circumstances the clinician may attend the participants home. Clinician will collect a 5-7mm section of skin, the area may be numbed beforehand and stitches may be used to close the wound when required. The wound will be dressed if deemed necessary by medical professional. Participant will meet clinician in a suitable local clinical setting, in select circumstances the clinician may attend the participants home. The clinician or phlebotomost will use a disposable needle to remove a blood sample (normally 50ml but could be up to 320ml for adults). Participant will meet clinician in a suitable local clinical setting, in select circumstances the clinician may attend the participants home. The clinician or other nominated member of the clinical team will provide a sterile urine collection vessel and direct the volunteer to a suitable private toilet area to provide the sample.
Eligibility Criteria
Individuals diagnosed with genetic diseases and/or healthy controls
You may qualify if:
- Male or female
- Individuals diagnosed with a genetic disease - any age between 1-120 years.
- Individuals diagnosed with a genetic disease - must be able to communicate well with the investigator and to comply with the requirements of the entire study OR be under the care of an appropriate guardian, if incapacitated or under the age of 16.
- Individuals diagnosed with a genetic disease - require provision of written informed consent either by participant or guardian, to participate as shown by a witnessed signature on the Subject Consent Form
- Individuals participating as controls - aged between 16-120 years.
- Individuals participating as controls -must be able to consent for themselves
You may not qualify if:
- Individuals less than 1 year old.
- Infection with any blood borne diseases (e.g. HIV, Hepatitis B or Hepatitis C).
- Previous or current intravenous drug abuse.
- For donation of blood samples only - has exceeded annual limit for blood donation.
- Affected by blood disorders such as anaemia, blood clotting disorders or currently on anticoagulant drug therapy.
- Individuals participating as controls - excluded if aged less than 16 years old.
- Individuals participating as controls - excluded if unable to consent for themselves.
- Individuals diagnosed with a genetic disease - unable to provide informed consent either by themselves or through an appropriate nearest relative, legal guardian or welfare attorney.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Sapna Vyaslead
Study Sites (1)
Alba Science
Edinburgh, Midlothian, EH1 3RH, United Kingdom
Related Links
Biospecimen
Cell lines derived from skin, urine or blood. No primary tissue retained. All samples anonymised. All samples consented for genetic analysis of cultured cells.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Ashley Barnes, BSc
Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)
- STUDY DIRECTOR
Sapna Vyas, MSc
Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR INVESTIGATOR
- PI Title
- Head of Scientific Programs
Study Record Dates
First Submitted
June 15, 2018
First Posted
August 2, 2018
Study Start
November 1, 2018
Primary Completion (Estimated)
July 1, 2028
Study Completion (Estimated)
July 1, 2028
Last Updated
May 13, 2026
Record last verified: 2026-05