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Clinical Trials

The world of research into CGD never stays still. As you read this, there are clinical trials taking place right across the globe that will benefit CGD-affected people. Some are specific to CGD and others - especially those associated with stem cell transplantation - may involve CGD patients and those with other genetic conditions. However, regardless of the geographical location of the trial, the results will help improve healthcare for those affected by CGD. In this section you can find out all about clinical trials.

What are clinical trials?

Clinical trials are biomedical or health-related research studies in human beings that follow a highly regulated, pre-defined procedure. they may help assess the effectiveness of a drug to treat a disease, test a new therapy, a new surgical procedure or medical device. For example clinical trials have been used to assess the effectiveness and safety of anti-fungal treatments for CGD. They may also be a longer-term observational study to understand more about the long-term implications of having a disease. The aim of clinical trials is to help improve healthcare.


How are they regulated?

Clinical trials can take place only after extensive studies in the laboratory have been done.

High quality information confirming the potential of a new treatment to help patients must be presented, scrutinised and approved by the appropriate regulatory authority in the country where the trial is taking place.

In the UK and Europe, the law governs clinical trials with standards set by the European Union Clinical Trials Directive.

In the UK trials are regulated by the Medicines and Healthcare Products Regulatory Agencyalthough other ethical boards and authorities may be additionally involved.

In the USA, clinical trials are regulated by the Food and Drug Administration (FDA).


Taking part in a trial

Clinicians and researchers MUST obtain the full and informed consent of participating human subjects and when appropriate the permission of a parent or legal guardian if a child is involved.

Anyone considering whether or not to take part in a clinical trial should be advised about the potential risks and benefits of participating before they make their decision. They must also be free to withdraw from the trial at any time without prejudicing their future medical care.

A registry of approved clinical trials from around the world is available at

General information on clinical trials is available at

Information on clinical trials for bone marrow transplantation is available at


Clinical trials and CGD

The list below gives details of clinical trials from around the world for CGD that are currently listed as being active on clinical trial registers. The list is not exhaustive.  Some clinical trials may be specific to CGD. Other trials, especially those associated with stem cell transplantation may involve CGD patients and patients with other genetic conditions. Regardless of the geographical location of the trial the results will help improve healthcare for those affected by CGD.

Clinical trials in the UK

Institution: Great Ormond Street Hospital for Children NHS Trust London

Study title: Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD).

This gene therapy trial uses the latest gene reagent (in this study called lentiviral vector), developed by funding from CGDS, to transfer a normal copy of human gp91-phox gene into the blood forming stem cells of patients' bone marrow to correct the genetic defect.

Note this study is not yet open for patients to take part but treatment may be offered on a compassionate basis.


Clinical trials in the rest of the world

Institution: USA – The National Institutes of Health (NIH).

As a major centre for CGD research, the NIH carries out many clinical trials involving people in the USA with CGD.

Study title: Infliximab to Treat Crohn's-like Inflammatory Bowel Disease in CGD.

A new trial is recruiting patients to find out if the drug infliximab is safe for treating inflammatory bowel disease (IBD) in patients with CGD. IBD is an inflammation or irritation of the gut that leads to symptoms such as diarrhoea, bloating and stomach cramps.  Infliximab is approved to treat Crohn's disease, an IBD similar to that seen in patients with CGD.


Study title: Gene Therapy for Chronic Granulomatous Disease.

Patients are being recruited into gene therapy trials for X-CGD.


Study title: Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in CGD. A new study will help understand the ways in which interferon-gamma may help CGD patients. Researchers are interested in studying changes in the immune system and activity of the enzyme affected in CGD, NADPH oxidase, caused by interferon-gamma treatment in individuals with different mutations that cause CGD.


Study title: Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System.

This study will test the theory that patients with CGD may be protected from developing atherosclerosis, hardening of the arteries, due to reduced superoxide and other ROS production by phagocytic cells.  Atherosclerosis is a major cause of heart disease. Participants will be contacted every 2 years in the future for up to 30 years to determine whether they have developed heart disease. The aim is to determine the prevalence of atherosclerosis in CGD and other patients with in-born disorders of the immune system as compared to the normal healthy population.


Study title: Detection and Characterization of Infections and Infection Susceptibility.

This is an observational study to examine the causes of immune disorders affecting white blood cells, which defend against infections. The study will seek to develop better means of diagnosis and treatment of these immune disorders.


 USA – Baylor College of Medicine, Houston, Texas.

Study title: HLA Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For CGD.

The aim of this bone marrow transplantation trial is to test a procedure to improve donor cell engraftment and the prevention of graft versus host disease (GVHD) in CGD. Patients will be treated with Campath (Alemtuzumab), an antibody directed against a marker that is present on most lymphocytes. Campath has been shown to be effective as an immunosuppressive drug, helping the process of donor grafts and preventing GVHD.


Institution: USA - Emory University/Children's Healthcare of Atlanta, Georgia

Study title: Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation.

This pilot study is aimed at helping prevent transplant rejection for patients with genetic conditions affecting the blood. It is aimed at improving success rates after a failed transplantation procedure. The study will use the drug Alefacept in combination with low dose chemotherapy to help reduce the sensitisation of the immune system to the failed transplant in an endeavour to help prevent rejection going forward.


Institution: USA - Children Hospital Los Angeles, Los Angeles, California

Study title: Unrelated Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells.

This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor. The study treatment plan uses a new transplant treatment approach that aims to try to decrease the toxicity and complications associated with the standard treatment plans and to improve outcomes.


Institution: USA - Fred Hutchinson Cancer Research Center/University of Washington Cancer Consortium Recruiting Seattle, Washington

Study title: Treosulfan and Fludarabine Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders.

This study is investigating whether a new conditioning regimen that uses less intensive drugs (treosulfan and fludarabine) results in engraftment of new donor cells without increased toxic effects in patients after transplant.


Institution: Korea - Seoul National University Hospital

Study title: Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in CGD.

Busulfan is a highly toxic drug with a narrow therapeutic window. The aim is to find out the optimal busulfan dose needed to give good outcomes in stem cell transplantation of CGD patients.



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