Protocols to model genetic diseases with induced pluripotent stem cells

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

This project will test methods to create and use induced pluripotent stem cells from people with genetic diseases and from healthy controls to build 'disease in a dish' models.

Quick facts

• Study type: Observational
• Enrollment: 3000 (estimated)
• Ages: 1 Year to 120 Years
• Sex: All
• Sponsor: Censo Biotechnologies Ltd (industry)
• Locations: 1 site (Edinburgh, Midlothian)
• Trial ID: NCT03612310 on ClinicalTrials.gov

What this trial studies

Researchers will collect skin, blood, and urine samples from participants with genetic diseases and consenting healthy controls and reprogram somatic cells into induced pluripotent stem cells (iPSCs). They will develop and refine protocols to differentiate those iPSCs into disease-relevant cell types and assemble panels of lines that represent different genetic backgrounds. The emphasis is on producing robust, reproducible procedures that work across multiple iPSC lines and can be repeated across laboratories. The resulting models are intended for studying disease mechanisms and for screening candidate therapies.

Who should consider this trial

Good fit: Ideal participants are people of any age diagnosed with a genetic disease who can consent or have an appropriate guardian, and healthy control volunteers aged 16 or older who can consent to provide samples.

Not a fit: People under one year of age, those with active blood-borne infections (e.g., HIV, hepatitis B or C), current or past intravenous drug abusers, or individuals unable to consent are excluded and thus unlikely to benefit directly.

Why it matters

Potential benefit: If successful, these protocols could enable reproducible patient-derived cellular models that speed discovery of disease mechanisms and candidate treatments while reducing reliance on animal models.

How similar studies have performed: iPSC-based disease models have been produced successfully for several genetic conditions (for example Huntington's disease and certain cardiac and neurological disorders), but consistent, cross-line protocols remain an active challenge.

Eligibility criteria

Inclusion Criteria:

* 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

Exclusion Criteria:

* 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.

Where this trial is running

Edinburgh, Midlothian

• Alba Science — Edinburgh, Midlothian, United Kingdom (RECRUITING)

Study contacts

• Principal investigator: Ashley Barnes, BSc — Censo Biotechnologies Ltd (t/a Axol Bioscience Ltd)
• Study coordinator: Sapna Vyas, MSc

Conditions: Genetic Disease