Gene Therapy for X-linked Chronic Granulomatous Disease
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|ClinicalTrials.gov Identifier: NCT02757911|
Recruitment Status : Active, not recruiting
First Posted : May 2, 2016
Last Update Posted : March 5, 2020
X-linked chronic granulomatous disease (X-CGD) is a rare genetic disorder, which affects boys. It is a primary immunodeficiency disorder which results from an inability of the white blood cells called phagocytic cells (or phagocytes) to kill invading bacteria and fungi. These cells have difficulty forming the free radicals (most importantly the superoxide radical due to defective phagocyte NADPH oxidase complex) which are important in the killing of ingested pathogens. In X-CGD (which accounts for two thirds of CGD patients), the defect lies in a gene which makes up a critical part of the NADPH-oxidase complex (the catalytic subunit; gp91-phox protein). Therefore they kill bacteria and fungi poorly, and the patients suffer from severe and recurrent infections. This also results in inflammation which can damage parts of the body such as the lung and gut.
In many cases, patients can be adequately protected from infection by constant intake of antibiotics. However, in others, severe life-threatening infections break through. In some cases, inflammation in the bowel or urinary systems results in blockages which cannot be treated with antibiotics, and which may require the use of other drugs such as steroids. Development of curative treatments for CGD is therefore of great importance.
|Condition or disease||Intervention/treatment||Phase|
|X-Linked Chronic Granulomatous Disease||Genetic: X vivo gene therapy||Phase 1 Phase 2|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||3 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||A Phase I/II, Non Randomized, Monocentric Open-label Study of Autologous CD34+ Cells Transduced With the G1XCGD Lentiviral Vector in Patients With X-Linked Chronic Granulomatous Disease|
|Study Start Date :||March 2016|
|Estimated Primary Completion Date :||June 2024|
|Estimated Study Completion Date :||June 2024|
Experimental: open label
X vivo gene therapy
Genetic: X vivo gene therapy
Transplantation of patient's autologous CD34+ cells transduced with lentiviral vector containing XCGD gene. The investigational product is patient-specific and corresponds to autologous CD34+ cells transduced ex vivo with the G1XCGD vector. These transduced cells will be cryopreserved until safety testing and infusion into the patient.
- Safety as measured by the incidence of adverse events [ Time Frame: 60 months ]
- Restoration and stability over time of the NADPH functioning granulocytes assessed by a Dihydrorhodamine (DHR) flow cytometry test [ Time Frame: 12 months ]
- Clinical improvement [ Time Frame: 60 months ]Assessed by: complete physical examination to assess the normalisation of nutritional status, the growth, the development, the decrease in the severity of the infection and/or inflammatory complication at inclusion.
- Percentage of transduced CD34+ haematopoietic cells infused and of blood cells over time [ Time Frame: 60 months ]
- Immunological reconstitution [ Time Frame: 60 months ]Assessed by: evidence of restored neutrophil functionality (DRH test), expression of gp91phox protein by flow cytometry and immunity against bacterial and fungal infections over time.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02757911
|Hôpital Necker Enfants Malades|
|Paris, France, 75015|
|Principal Investigator:||Stéphane BLANCHE, MD, PHD||Hôpital Necker-Enfants Malades|