Protocols to model genetic diseases with induced pluripotent stem cells

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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
• Email: sapna.vyas@axolbio.com
• Phone: 07301281904

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.