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Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells

NCT03612310 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 3000

Last updated 2026-05-13

No results posted yet for this study

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.

Conditions

Interventions

PROCEDURE

Skin biopsy/Urine Collection/Blood Sample Collection

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.

Sponsors & Collaborators

  • Sapna Vyas

    lead INDUSTRY

Principal Investigators

  • Ashley Barnes, BSc · Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)

  • Sapna Vyas, MSc · Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)

Eligibility

Min Age
1 Year
Max Age
120 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-11-01
Primary Completion
2028-07-01
Completion
2028-07-01

Countries

  • United Kingdom

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03612310 on ClinicalTrials.gov