X-Linked Chronic Granulomatous DiseasePhase 1/2CGDNCT01855685
Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD)
A Phase 1/2 study testing X vivo gene therapy in people with X-Linked Chronic Granulomatous Disease, run by Genethon at 2 sites in United Kingdom.
Trial 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… Read more about this study
- Who is it for?
- Ages 6 months and older, men only
- Conditions the study is for
- X-Linked Chronic Granulomatous Disease
- What is being tested?
- X vivo gene therapy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 2 sitesUnited Kingdom
- Study dates
- 24 Jun 2013to 17 Oct 2025
- Phase
- Phase 1/2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Contraindication for leukapheresis
- Contraindication for administration of conditioning medication
- Administration of gammainterferon within 30 days before the infusion of transduced autologous CD34+ cells
Trial locations and contacts
2 sites in 1 country.
United Kingdom2 sites
University College London Hospital (UCLH)
London, NW1 2PG
Great Ormond Street Hospital NHS Foundation Trust
London
About this study
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
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.
- Conditions
- X-Linked Chronic Granulomatous Disease
- Being tested
- X vivo gene therapy
- Keywords
- XCGD, lentivirus, cellular therapy
- Medical subject headings
- Granulomatous Disease, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
X vivo gene therapyGenetic
Transplantation of patient's autologous CD34+ cells transduced with lentiviral vector containing GP91PHOX gene
| Study group | Role | What they receive |
|---|---|---|
| Open label | Experimental | X vivo gene therapy Receives: Genetic: X vivo gene therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety of the procedure as measured by the incidence of adverse events
Measured: 24 months
Restoration and stability over time of the NADPH functioning granulocytes assessed by a DHR test
Measured: 12 months
Secondary outcomes (3)
Normalisation of nutritional status, growth, development, severe infection and/or inflammatory complication which recommended patient's inclusion
Measured: 24 months
Percentage of transduced CD34+ haematopoietic cells infused and of blood cells over time
Measured: 24 months
Immunological reconstitution
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 May 2013 (estimated)
- Study start24 Jun 2013
- Primary completion4 Jun 2021
- Study completion17 Oct 2025
Why it stopped: Last patient withdrawed from the study.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-Linked Chronic Granulomatous DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genethon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Adrian Thrasher, MD, PHD, Principal investigator, Great Ormond Street Hospital NHS Foundation Trust - London - UKJanine Reichenbach, MD, Principal investigator, University Children's Hospital Zürich - SwitzerlandHubert Serve, MD, PHD, Principal investigator, Department of Hematology/Oncology, University Hospital Frankfurt and Institute for Biomedical Research, Georg-Speyer-Haus, Frankfurt - GermanyEmma Morris, MD, PHD, Principal investigator, Royal Free Hospital / University College London Hospital (UCLH)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01855685
- Sponsor's protocol ID
- G1XCGD.01
- Acronym
- CGD
- Status last verified
- Oct 2025
- First submitted
- 14 May 2013
- Last updated
- 13 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT01855685
- Acronym / sponsor ID
- CGD / G1XCGD.01
- Conditions
- X-Linked Chronic Granulomatous Disease
- Keywords
- XCGD, lentivirus, cellular therapy
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Last patient withdrawed from the study.
- Enrolment
- 3 participants (actual)
- Lead sponsor
- GenethonUniversity, hospital or other
- Study start
- 24 Jun 2013 (actual)
- Primary completion
- 4 Jun 2021 (actual)
- Study completion
- 17 Oct 2025 (actual)
- First posted
- 16 May 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open label | Experimental | Genetic: X vivo gene therapyX vivo gene therapy |
Who may qualify
- Ages
- 6 months and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- Contraindication for leukapheresis
- Contraindication for administration of conditioning medication
- Administration of gammainterferon within 30 days before the infusion of transduced autologous CD34+ cells
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| X vivo gene therapyTransplantation of patient's autologous CD34+ cells transduced with lentiviral vector containing GP91PHOX gene | Genetic | Open label |
Primary outcome
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
3 secondary outcomes
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
Results and safety
The study was stopped early (reason given: Last patient withdrawed from the study.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2026.
Related trials for X-Linked Chronic Granulomatous Disease
RecruitingPhase 1/2
Base Editing for Mutation Repair in Hematopoietic Stem & Progenitor Cells for X-Linked Chronic Granulomatous Disease
Chronic Granulomatous Disease (CGD), X-Linked Chronic Granulomatous Disease
Enrolling by invitationPhase 1/2
pCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)
p47, Autosomal Recessive
Not yet recruiting
Lentiviral Gene Therapy for CGD
Chronic Granulomatous Disease
RecruitingPhase 1
NADPH Oxidase Correction in mRNA-transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)
Chronic Granulomatous Disease, Infection
Active, not recruitingEarly Phase 1
Haploidentical Transplant for People With Chronic Granulomatous Disease (CGD) Using Alemtuzumab, Busulfan and TBI With Post-Transplant Cyclophosphamide
Chronic Granulomatous Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Adrian Thrasher, MD, PHD principal investigator
Great Ormond Street Hospital NHS Foundation Trust - London - UK
Janine Reichenbach, MD principal investigator
University Children's Hospital Zürich - Switzerland
Hubert Serve, MD, PHD principal investigator
Department of Hematology/Oncology, University Hospital Frankfurt and Institute for Biomedical Research, Georg-Speyer-Haus, Frankfurt - Germany
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing X vivo gene therapy in people with X-Linked Chronic Granulomatous Disease, run by Genethon at 2 sites in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 13 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: Last patient withdrawed from the study.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety of the procedure as measured by the incidence of adverse events (time frame: 24 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2026.