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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01855685
Recruitment Status : Active, not recruiting
First Posted : May 16, 2013
Last Update Posted : May 21, 2021
Information provided by (Responsible Party):

Tracking Information
First Submitted Date  ICMJE May 14, 2013
First Posted Date  ICMJE May 16, 2013
Last Update Posted Date May 21, 2021
Actual Study Start Date  ICMJE June 24, 2013
Estimated Primary Completion Date September 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: May 14, 2013)
  • 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 ]
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: May 14, 2013)
  • 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 ]
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title  ICMJE Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD)
Official Title  ICMJE 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
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.

Detailed Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Phase 1
Phase 2
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Condition  ICMJE X-Linked Chronic Granulomatous Disease
Intervention  ICMJE Genetic: X vivo gene therapy
Transplantation of patient's autologous CD34+ cells transduced with lentiviral vector containing GP91PHOX gene
Study Arms  ICMJE Experimental: Open label
X vivo gene therapy
Intervention: Genetic: X vivo gene therapy
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status  ICMJE Active, not recruiting
Actual Enrollment  ICMJE
 (submitted: March 3, 2020)
Original Estimated Enrollment  ICMJE
 (submitted: May 14, 2013)
Estimated Study Completion Date  ICMJE September 2022
Estimated Primary Completion Date September 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: Male
Ages  ICMJE 6 Months and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United Kingdom
Removed Location Countries Germany,   Switzerland
Administrative Information
NCT Number  ICMJE NCT01855685
Other Study ID Numbers  ICMJE G1XCGD.01
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Genethon
Study Sponsor  ICMJE Genethon
Collaborators  ICMJE Not Provided
Investigators  ICMJE
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)
PRS Account Genethon
Verification Date May 2021

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP