Volunteer for X-linked CGD carrier research

If you are a carrier of X-linked CGD, taking part in much-needed research could help improve your health – and that of those affected around the world.

This study from 2011 is now closed. You can find out the results here.

Researchers at the UK’s Great North Children’s Hospital, Great Ormond Street Hospital and The Royal Free Hospital, need volunteers to investigate health problems associated with being a carrier of X-linked CGD.

The research aims to build on evidence from a 2009 CGD Society survey that highlighted a link between X-linked carrier status and lupus-like symptoms (lupus is a condition which affects the immune system). A second study, run by the CGD team at Great Ormond Street Hospital, will look at how being a carrier affects white blood cells, whether this changes as people get older and some of the possible genetic reasons for this. 

If you choose to take part in the research, you may be asked to consent to both studies.

“Vital study”

Dr Andrew Gennery, who leads the project at the Great North Children’s Hospital, explains:

“This research aims to look in-depth at the health of carriers of X-linked CGD in the UK. There is increasing evidence that this group, who were previously thought to be healthy, can have problems with their skin, joints, bowels and, sometimes, other medical problems. Some may even have symptoms of CGD."

“We hope this research will help us better cater for the needs of people who are carriers. We would encourage all X-linked carriers to take part in this vital study.”

What will the project do and why is it important?

Many people who are carriers of X-linked CGD are experiencing health problems. Sometimes those women carrying the X-linked gene may even have the symptoms of CGD. Researchers don’t yet know how common this is or if there are other symptoms that affect carriers more often than people who don’t have the abnormal gene.

This new research will find out if carriers have similar symptoms to boys who have CGD and how often this happens. If they do, it would change current thinking about carrier status for CGD and have important implications for people’s healthcare, including earlier appropriate treatment and assessment. This will help improve the quality of life of carriers. The research may alter the way carriers of X-linked CGD are treated and the information given to people about what it means to be a carrier. 

Where is this research taking place?

In three main centres: Great North Children’s Hospital, Newcastle upon Tyne, Great Ormond Street Hospital, London and The Royal Free Hospital, London.

Who can take part?

Women over the age of 16 who live in the UK who know they are a carrier of X-linked CGD. If you are over this age and think you might be a carrier, you can find out your carrier status. Then you can take part if you get confirmation of this. Girls between 12 and 16 who are known carriers can also participate.

Taking part in this research is voluntary but you will need to give your “informed consent”. This means that researchers will explain what the study is for, what is involved and what implications it could have for you. You may ask questions and once your queries have been answered, you can agree to take part in the study by signing a consent form or choose not to.

Are there any people who can’t take part in the research?

Yes, children under 16 who don’t know if they are a carrier of X-linked CGD. This is because it would not be appropriate to carry out research on people who don’t yet know they are a carrier. Normally children under 16 aren’t tested because they need to be old enough to make their own decision if they want to know if they are a carrier.  If you have questions about this, discuss them with the doctor who normally cares for you.

What happens if you don’t want to take part or withdraw from the study at a later date?

If you don’t want to take part that’s absolutely fine and will not affect your healthcare or relationship with your doctor in any way. Similarly, if you have given your consent to take part but change your mind, you can withdraw from the study at any stage without having to give a reason. Again, this will not affect your healthcare.

What does taking part in the study involve?

Taking part means you give your consent to:

  1. allow researchers access to your medical records so they can study detailed information about your health and hospital admissions. This will help them build a picture of your health.
  2. complete a health questionnaire that will focus on any symptoms of CGD you may have.
  3. give a blood and stool sample. This is so researchers can see how many white blood cells are affected by being a carrier and to test for common bugs found in the bowel. Then they can find out more about bowel problems some carriers experience.
  4. complete a psychological assessment. This includes completing questionnaires about your quality of life and emotions and an IQ test.

If you choose to take part in the second study, you will also have a mouth swab. This will allow researchers to will look at how being a carrier affects white blood cells and the genetic factors behind it.

All of the tests could be completed in one session when you attend a clinic appointment with your relative. Alternatively, you can do the questionnaires at home and post them to researchers but the IQ test will need to be performed during the clinic visit. If it is more convenient for you to come on a separate occasion, then that can also be arranged.

How much time will this take and what support will be given?

The questionnaires will take around 30 minutes to complete and the IQ test from 60 to 90 minutes. Throughout, the team’s clinical psychologist is available to help with any emotional issues that come up as a result of taking part in the project.  If medical difficulties are identified, they will be referred to an appropriate hospital service or your GP.

Will I find out about the results of the study?

Yes. If you have an IQ test you will find out your own results. Overall results of the research should be available in two years’ time and will be reported to the CGD Society. The aim is to publish them in a medical journal to influence healthcare for X-linked CGD carriers around the world.

How to get involved

Please send an email indicating your interest in taking part to either:

Dr Alex Battersby, Research Associate on the study, whose email address is a.battersby@ncl.ac.uk

or

click here to contact our Clinical Nurse Specialist, Helen Braggins