Genetic DiseaseNCT03612310
Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
An observational study of Genetic Disease, run by Sapna Vyas at 1 site in United Kingdom.
Trial 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… Read more about this study
- Who is it for?
- Ages 1 year to 120 years
- Conditions the study is for
- Genetic Disease
- What is being tested?
- Skin biopsy/Urine Collection/Blood Sample Collection
- Type of treatment
- Surgery or procedure
- How many people
- 3,000 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Nov 2018to 1 Jul 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 1 year to 120 years
- All sexes
- Child, Adult, Older adult
Study population: Individuals diagnosed with genetic diseases and/or healthy controls
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Amaia Paredes, PhD contact
United Kingdom1 site, 1 recruiting
- Recruiting
Alba Science
Edinburgh, Midlothian, EH1 3RH
Dr Jennifer Brogan, 0131297009, jennifer.brogan@albascience.com
About this study
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.
Read the detailed description
Recent advances in biotechnology have shown that somatic cells (such as skin, blood and urine cells) from human adults and children can be reprogrammed to change their characteristics and become other types of cells that may be useful for disease modelling and drug screening. This includes the generation of induced pluripotent stem cells (iPS cells) which can be derived from these somatic cells by a process known as "cellular reprogramming". These iPSCs share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to differentiate into any cell of the body. However, unlike embryonic stem cells, the generation of iPSCs avoids the practical and ethical difficulties of obtaining embryonic tissues. Consequently, cellular reprogramming and iPSC technology has great implications in the field of disease modelling and drug screening.
Many obstacles must be overcome before iPSC based disease modelling and drug screening can fully be realised and allow replacement of inadequate animal models and simplistic cell models. This study will enable us to gather samples from a range of participants from different disease backgrounds, and to develop suitable panels of iPSCs for the purpose of protocol development. Development of robust protocols which are suitable for use across multiple iPSC lines and repeatable across multiple laboratories are essential for the use of iPSCs in disease modelling and drug screening. This study will allow us to look at causation of disease across a range of disease specific cell lines with known genetic backgrounds which are representative of a cohort of human patients. This is fundamental for development of iPSC based drug screening assays.
- Conditions
- Genetic Disease
- Being tested
- Skin biopsy/Urine Collection/Blood Sample Collection
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsy/Urine Collection/Blood Sample CollectionProcedure or surgery
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2018
- Study start1 Nov 2018
- Primary completion1 Jul 2028 (estimated)
- Study completion1 Jul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- 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
- Other
- Enrolment
- 3,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sapna Vyas
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor-investigator, Sapna Vyas, Censo Biotechnologies Ltd
- Investigators
- Ashley Barnes, BSc, Principal investigator, Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)Sapna Vyas, MSc, Study director, Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03612310
- Sponsor's protocol ID
- 18/SS/0061
- Status last verified
- May 2026
- First submitted
- 15 Jun 2018
- Last updated
- 13 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Pseudonymised / anonymised data will be disseminated via peer reviewed scientific journals, internal reports and scientific presentations.
Study at a glance
From the registry record, last updated by the sponsor on 13 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
- ClinicalTrials.gov ID
- NCT03612310
- Acronym / sponsor ID
- 18/SS/0061
- Conditions
- Genetic Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- Sapna VyasIndustry (pharma, biotech, devices)
- Study start
- 1 Nov 2018 (actual)
- Primary completion
- 1 Jul 2028 (estimated)
- Study completion
- 1 Jul 2028 (estimated)
- First posted
- 2 Aug 2018 (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.
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.
Detailed description
Recent advances in biotechnology have shown that somatic cells (such as skin, blood and urine cells) from human adults and children can be reprogrammed to change their characteristics and become other types of cells that may be useful for disease modelling and drug screening. This includes the generation of induced pluripotent stem cells (iPS cells) which can be derived from these somatic cells by a process known as "cellular reprogramming". These iPSCs share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to differentiate into any cell of the body. However, unlike embryonic stem cells, the generation of iPSCs avoids the practical and ethical difficulties of obtaining embryonic tissues. Consequently, cellular reprogramming and iPSC technology has great implications in the field of disease modelling and drug screening.
Many obstacles must be overcome before iPSC based disease modelling and drug screening can fully be realised and allow replacement of inadequate animal models and simplistic cell models. This study will enable us to gather samples from a range of participants from different disease backgrounds, and to develop suitable panels of iPSCs for the purpose of protocol development. Development of robust protocols which are suitable for use across multiple iPSC lines and repeatable across multiple laboratories are essential for the use of iPSCs in disease modelling and drug screening. This study will allow us to look at causation of disease across a range of disease specific cell lines with known genetic backgrounds which are representative of a cohort of human patients. This is fundamental for development of iPSC based drug screening assays.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- 1 year to 120 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals diagnosed with genetic diseases and/or healthy controls
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (8 listed)
- 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.
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 |
|---|---|---|
| Skin biopsy/Urine Collection/Blood Sample CollectionParticipant 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. | Procedure or surgery | – |
Primary outcome
Number of disease relevant iPSC differentiation protocols generated within the study
Time frame: 2 years
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 May 2026.
- Censo Biotechnologies Ltd Website (trading as Axol Bioscience)Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided. Pseudonymised / anonymised data will be disseminated via peer reviewed scientific journals, internal reports and scientific presentations.
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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.
Amaia Paredes, PhD contact
Ashley Barnes, BSc principal investigator
Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)
Sapna Vyas, MSc study director
Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)
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 Genetic Disease, run by Sapna Vyas at 1 site in United Kingdom.
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 6 inclusion and 8 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: looking for participants now, as of the sponsor's last update on 13 May 2026. 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 United Kingdom. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sapna Vyas, MSc (07301281904, sapna.vyas@axolbio.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of disease relevant iPSC differentiation protocols generated within the study (time frame: 2 years). 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 13 May 2026.