RecruitingOBSERVATIONAL

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

This study aims to develop powerful tools for understanding and potentially treating genetic diseases. Researchers will collect small samples of skin, urine, or blood from individuals with different genetic conditions, as well as from healthy volunteers. From these samples, they can create special cells called 'induced Pluripotent Stem Cells' (iPSCs). These iPSCs are incredibly versatile because they can change into almost any other cell type in the body, like brain cells or blood cells. This allows scientists to create 'a disease in a dish' to study how genetic conditions affect specific cells and test new medicines without needing to test on people directly. The goal is to improve how we study these diseases and find new treatments.

At a glance

Status

Recruiting

Sponsor

Sapna Vyas

Enrolment target

3,000

Start

01 Nov 2018

Estimated completion

01 Jul 2028

Genetic Disease

What is this study about?

Imagine being able to understand how a disease works right down to the tiny cells in your body, and then test new medicines to see if they can help, all in a safe dish in a lab. That's essentially what this research is trying to achieve. Scientists have found a clever way to take ordinary cells from a skin biopsy, a urine sample, or a blood test, and turn them into extraordinary cells called 'induced Pluripotent Stem Cells' (iPSCs). These iPSCs are very special because they can grow into any other type of cell found in the body, like nerve cells, heart cells, or skin cells. It's like having a blank canvas that you can paint into any picture you want.

Why is this discovery so important? Well, it means that if someone has a genetic condition, scientists can take a small sample, create these iPSCs, and then guide them to become the specific type of cell that is affected by that condition. For example, if a genetic disease affects the brain, they can make brain cells from the patient's iPSCs. This allows them to study how the disease affects these particular cells in a lifelike way, nicknamed 'a disease in a dish.' This method avoids the ethical concerns sometimes associated with embryonic stem cells and creates cells that are specific to the individual's genetic make-up.

The main goal of this study is to create and improve the step-by-step instructions (called 'protocols') for turning these iPSCs into specific cell types and then using them to accurately study genetic diseases and test potential new treatments. By collecting samples from a variety of people – both those with genetic conditions and healthy volunteers – researchers can compare cells and better understand what goes wrong in disease. Ultimately, this research is about building a better toolkit for scientists to accelerate the discovery of new ways to understand and treat genetic diseases that affect many people.

Key takeaways

Your small sample helps scientists create special 'master cells' (iPSCs).
These iPSCs help researchers study genetic diseases in a lab dish.
The goal is to develop better tools for finding new treatments.
Participation involves a single sample collection (skin, urine, or blood).
You won't receive direct health benefits, but you'll contribute to future discoveries.
You can withdraw from the study at any time.

Who may be eligible?

To take part in this study, you would generally need to be at least 1 year old. If you have a diagnosed genetic disease, there's no upper age limit, and your guardian can give consent if you're under 16 or unable to give consent yourself.

If you don't have a genetic disease and are joining as a healthy volunteer (often called a 'control'), you need to be between 16 and 120 years old and be able to give your own consent. Unfortunately, if you have certain health conditions like HIV, Hepatitis B or C, or specific blood disorders, or if you've recently used intravenous drugs, you wouldn't be able to join.

Also, for blood donations specifically, there are limits on how much blood you can donate in a year, and if you've already reached that limit, you might not be eligible for a blood sample. The research team will carefully review all these details with you to make sure it's safe and appropriate for you to participate.

Quick self-check

Are you at least 1 year old?
If you have a genetic disease, can you or your guardian give consent?
If you're a healthy volunteer, are you between 16 and 120 years old and can you give consent yourself?
Do you have any conditions like HIV, Hepatitis B/C, or certain blood disorders?
Have you exceeded annual blood donation limits (if considering a blood sample)?
Have you used intravenous drugs in the past or present?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part, you would provide a small sample. This could be a tiny skin biopsy (a small piece of skin removed), a urine sample, or a blood sample. The research team will explain exactly what this involves and which type of sample they need from you. There are no medications involved in this study for you to take, and no follow-up visits are typically needed after you've given your sample. The total time commitment for you would be just for the sample collection itself, which is usually a single visit or a home collection for urine.

Potential risks and benefits

Participating in this study won't directly benefit your health, as the samples are used for research purposes to help others in the future. However, you would be contributing to vital scientific understanding of genetic diseases, potentially leading to new treatments down the line. The risks involved are minimal and relate to the sample collection itself, such as a small bruise or discomfort from a blood test or minor soreness from a skin biopsy. You have the right to withdraw from the study at any time, even after giving your consent, without it affecting your medical care.

Locations (1)

Alba Science
Edinburgh, United Kingdom· Recruiting

Common questions

What is an iPSC?

An iPSC is a special type of cell that scientists can create from your skin, blood, or urine. It's like a 'master cell' that can be turned into almost any other cell type in your body.

Will this study help me directly?

This study is for research purposes and is unlikely to directly improve your health. However, your contribution is very important for understanding genetic diseases and developing future treatments.

What kind of sample do I need to give?

You might be asked for a small skin sample, a urine sample, or a blood sample. The research team will discuss the best option for you.

How long will it take to participate?

Your involvement would typically be a single occasion for providing the sample. There are no ongoing visits or treatments for you to manage.

Can I change my mind after agreeing to take part?

Yes, you are completely free to withdraw from the study at any point, and it won't affect your medical care in any way.

How to find out more

Sapna Vyas, MSc

sapna.vyas@axolbio.com 07301281904 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.