What we need: Medical research

There are a number of projects which we are running and require further funding for or are planning to start in the near future:-

  • Discovering the genetic causes of Primary Immunodeficiency (PIDs)
  • Understanding the genetic causes of SCID has helped us to improve our understanding of how these diseases present and also improve our treatment.

We are one of the most successful research units in primary immunodeficiency and have discovered the cause of 5 primary immunodeficiency’s in 2010 alone!

These exciting breakthroughs open up the way for better diagnosis and even more successful treatment.

Finding out what life is like for PID patients and making it better

This prize winning research focuses on PID patients, finding out about the illnesses they suffer and the effect this has on their physical mental, emotional and economic well-being. Armed with this information we are devising new treatments that aim to benefit every aspect of life.

Studying complex autoimmune disease and finding new curative treatments using haematopoietic stem cell

Lupus and rheumatoid arthritis are autoimmune disease we recognised in adults, but they occur in children too, often causing devastating debilitating illness.

Standard immunosuppressive treatment can be very helpful but they are not a permanent cure.
We are carrying out research to find the causes in these children and design ways to perform stem cell transplants to give a permanent cure. Our initial results are very encouraging, with cure in 75% of patients.

Finding ways to make transplantation even more successful

We have pioneered the highly successful use of umbilical cord stem cells to transplant young children with SCID. We are also investigating new treatments that prepare the patient for the stem cell graft in ways that are less toxic yet result in greater survival and improved immune function.

Our current project is:

An Investigation into the Health of Carriers of X-linked Chronic Granulomatous Disease 

Background

Chronic Granulomatous Disease (CGD) is a rare disease affecting the immune system. The disorder affects the neutrophils, a type of white blood cell that clear bacterial and fungal infection, and also other cellular ‘rubbish’, and so helps prevent inflammation. In CGD the neutrophils are able to identify the infection but unable to kill the bacteria and fungi. This results in recurrent infections and inflammation.

CGD is an inherited condition. In most cases the gene for CGD is carried on the X chromosome which means mothers pass the gene on to their sons.  As boys only have one X-chromosome they are affected by the gene. Women have two X-chromosomes and if they possess one copy of the gene are said to be carriers. Male patients suffer from recurrent lung, and occasionally liver, infection, as well as inflammatory lung and bowel disease. Female carriers have been thought not to suffer from having one copy of the gene other than having mild skin problems.

The CGD Registry

In 2000, a registry of CGD patients in the UK and Ireland was created by collaborative work between the Paediatric Immunology Departments in Newcastle and in London. This has subsequently been updated. The registry has detailed information about symptoms, clinical problems and outcome about all of these patients. This greatly enhanced medical knowledge about CGD including impacting on treatments offered for these patients. The results of the updating of the CGD Registry has been published in medical journals and presented at international conferences.

The Carrier Project

Female carriers of CGD have traditionally been considered well with no problems associated with being a carrier.  However, increasingly case reports in medical literature and our own anecdotal cases have shown us that this may not be the case. We have found that carrier women are suffering from similar bowel problems as the male patients and also problems with joints, skin and even recurrent infection.

We have set up a project (GNCH, Newcastle upon Tyne, GOSH and Royal Free Hospital, London) to collect detailed medical information about the female carriers, in a similar way to the CGD Registry. The aim is to establish if female carriers are affected and if so, how often they are affected and in what ways. The only study to date that has looked at the carriers was performed in London and included 33 carrier females. This study has been designed to collect more detailed information and will recruit a larger number of participants. If we find that carrier females do suffer from similar symptoms as patients, we will be able to alert other doctors to these findings, so that appropriate treatment may be offered.

What have we done so far?

The study received a grant of £45,000 from The Bubble Foundation which enabled us to start the study. As the study involves regular contact with patients and their families, all of whom have been affected by CGD, a doctor with experience in this area was required. The funding allowed a clinical research associate to be employed full time.  The first year was spent designing the project to ensure we were going to collect the correct information. Applications to Research and Development were made and all necessary approvals gained. The project received favourable opinion from the Ethics Committee which allowed the study to start. Recruitment was commenced in Newcastle in July 2012 and the approvals for recruitment to occur at other sites are underway.  We currently have 12 women recruited to the study.  We are presenting the project at the CGD Society Carrier Day which will increase awareness and aid recruitment.

What remains to be done?

Recruitment is well underway but there remain a considerable number of carriers/families who are yet to be approached.  It is anticipated that this study should recruit 50 to 100 participants. Once recruited each participant completed a number of health questionnaires and has an IQ assessment as well as completing questionnaires about quality of life and psychological health.  The data collected must then be analysed and prepared for publication. Publications will take a number of formats. The results will be prepared for publication in medical journals and at national and international medical conferences. The results will also be presented to the families and carriers and it is anticipated this will be through one of the Family Days.

Funding is required in order for this study to be completed.  A full term clinical research associate is needed for recruitment, data collection and data analysis. As the carriers are seen at several centres in the UK, funding is required for the research associate to travel to the different centres, although this is kept to a minimum and carriers are seen at either Newcastle or London whenever possible.

The cost of this 18month project which begins in March 2013, is £100.000. The Bubble Foundation is committed to provide £50.000 of this cost

For further information contact Dr Alex Battersby  at a.battersby@ncl.ac.uk