Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD)

A Phase I/II, Non Randomized, Multicenter, Open-label Study of Autologous CD34+ Cells Transduced With the G1XCGD Lentiviral Vector in Patients With X-linked Chronic Granulomatous Disease


Lead Sponsor: Genethon

Source Genethon
Brief Summary

X-linked chronic granulomatous disease (X-CGD) is a rare genetic disorder, which affects boys. It is caused by an error in a gene that makes part of the immune system. The basic defect lies in specialised white blood cells called phagocytic cells (or phagocytes), which are responsible for protection against infection by destroying invading bacteria and fungi. They do this by pouring large amounts of substances similar to bleach onto these organisms. In CGD, there is a defect in the system that makes the bleach, called the NADPH-oxidase. In X-CGD (which accounts for two thirds of patients), the defect lies in a gene which makes up a critical part of the NADPH-oxidase (known as gp91-phox), and the cells cannot make bleach-like substances. 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.

Overall Status Active, not recruiting
Start Date 2013-06-24
Completion Date 2022-09-01
Primary Completion Date 2022-09-01
Phase Phase 1/Phase 2
Study Type Interventional
Primary Outcome
Measure Time Frame
Safety of the procedure as measured by the incidence of adverse events 24 months
Restoration and stability over time of the NADPH functioning granulocytes assessed by a DHR test 12 months
Secondary Outcome
Measure Time Frame
Normalisation of nutritional status, growth, development, severe infection and/or inflammatory complication which recommended patient's inclusion 24 months
Percentage of transduced CD34+ haematopoietic cells infused and of blood cells over time 24 months
Immunological reconstitution 24 months
Enrollment 3

Intervention Type: Genetic

Intervention Name: X vivo gene therapy

Description: Transplantation of patient's autologous CD34+ cells transduced with lentiviral vector containing GP91PHOX gene

Arm Group Label: Open label



Inclusion Criteria: - Male X-CGD patients - Molecular diagnosis confirmed by DNA sequencing - At least one prior ongoing or resistant severe infection and/or inflammatory complications requiring hospitalisation despite conventional therapy - No HLA-matched donor available after 3 months search unless the risk of waiting for a potential match or for performing an allogeneic transplant is considered unacceptable by the investigator Exclusion Criteria: - Contraindication for leukapheresis - Contraindication for administration of conditioning medication - Administration of gammainterferon within 30 days before the infusion of transduced autologous CD34+ cells



Minimum Age:

6 Months

Maximum Age:


Healthy Volunteers:


Overall Official
Overall Contact Contact information is only displayed when the study is recruiting subjects.
University College London Hospital (UCLH) | London, NW1 2PG, United Kingdom
Great Ormond Street Hospital NHS Foundation Trust | London, United Kingdom
Location Countries

United Kingdom

Verification Date


Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Number Of Arms 1
Arm Group

Label: Open label

Type: Experimental

Description: X vivo gene therapy

Acronym CGD
Study Design Info

Allocation: N/A

Intervention Model: Single Group Assignment

Primary Purpose: Treatment

Masking: None (Open Label)

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