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

This study is currently recruiting participants.
See Contacts and Locations
Verified January 2017 by Genethon
Information provided by (Responsible Party):
Genethon Identifier:
First received: May 14, 2013
Last updated: February 7, 2017
Last verified: January 2017

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.

Condition Intervention Phase
X-Linked Chronic Granulomatous Disease Genetic: X vivo gene therapy Phase 1 Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: 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

Resource links provided by NLM:

Further study details as provided by Genethon:

Primary Outcome Measures:
  • Safety of the procedure as measured by the incidence of adverse events [ Time Frame: 24 months ]
  • Restoration and stability over time of the NADPH functioning granulocytes assessed by a DHR test [ Time Frame: 12 months ]

Secondary Outcome Measures:
  • Normalisation of nutritional status, growth, development, severe infection and/or inflammatory complication which recommended patient's inclusion [ Time Frame: 24 months ]
  • Percentage of transduced CD34+ haematopoietic cells infused and of blood cells over time [ Time Frame: 24 months ]
  • Immunological reconstitution [ Time Frame: 24 months ]

Estimated Enrollment: 5
Study Start Date: February 2013
Estimated Study Completion Date: March 2020
Estimated Primary Completion Date: March 2020 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Open label
X vivo gene therapy
Genetic: X vivo gene therapy
Transplantation of patient's autologous CD34+ cells transduced with lentiviral vector containing GP91PHOX gene


Ages Eligible for Study:   6 Months and older   (Child, Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01855685

University Hospital Frankfurt and Institute for Biomedical Research, Georg-Speyer-Haus Recruiting
Frankfurt, Germany
Contact: Hubert SERVE, MD, PhD    +49-69-6301-5194   
Contact: Joachim SCHWAEBLE, MD    +49 69 6782 4900   
University Children's Hospital Zürich Recruiting
Zurich, Switzerland, CH-8032
Contact: Janine REICHENBACH, MD    + 41 44 266 78 15   
United Kingdom
University College London Hospital (UCLH) Recruiting
London, United Kingdom, NW1 2PG
Contact: Emma Morris    +44 (0)20 7794 0500   
Royal Free Hospital (RFH) Recruiting
London, United Kingdom, NW3 2QG
Contact: Emma Morris    +44(0) 207 794 05 00   
Great Ormond Street Hospital NHS Foundation Trust Recruiting
London, United Kingdom
Contact: Adrian THRASHER, MD, Phd    + 44 (0)2079052292   
Sponsors and Collaborators
Principal Investigator: Adrian Thrasher, MD, PHD Great Ormond Street Hospital NHS Foundation Trust - London - UK
Principal Investigator: Janine Reichenbach, MD University Children's Hospital Zürich - Switzerland
Principal Investigator: Hubert Serve, MD, PHD Department of Hematology/Oncology, University Hospital Frankfurt and Institute for Biomedical Research, Georg-Speyer-Haus, Frankfurt - Germany
Principal Investigator: Emma Morris, MD, PHD Royal Free Hospital / University College London Hospital (UCLH)
  More Information

Responsible Party: Genethon Identifier: NCT01855685     History of Changes
Other Study ID Numbers: G1XCGD.01
Study First Received: May 14, 2013
Last Updated: February 7, 2017

Keywords provided by Genethon:
XCGD, lentivirus, cellular therapy

Additional relevant MeSH terms:
Granulomatous Disease, Chronic
Lymphoproliferative Disorders
Lymphatic Diseases
Pathologic Processes
Phagocyte Bactericidal Dysfunction
Leukocyte Disorders
Hematologic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Immunologic Deficiency Syndromes
Immune System Diseases processed this record on September 19, 2017