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Base Editing for X-Linked Chronic Granulomatous Disease

This study is testing a new approach called base editing to help men with X-linked Chronic Granulomatous Disease (CGD). CGD is a rare immune disorder where white blood cells don't work correctly, leading to serious infections. Researchers want to see if base-edited hematopoietic stem and progenitor cells (special cells that can develop into different blood cells) can fix the genetic problem in white blood cells. Before receiving these cells, you would get medications like Plerixafor and Filgrastim to help collect your stem cells, and Busulfan to prepare your body. The main goals are to check the safety of the base-edited cells over two years and how well they work after 12 months to improve white blood cell function and reduce infections. This study is for men aged 18 to 75 with a specific genetic mutation (CYBB c.676 C>T) and a history of serious infections.

Study design
This is an open-label, non-randomized Phase 1/2 study. It plans to enroll 10 male participants.
What's involved
You would undergo apheresis to collect stem cells, receive conditioning chemotherapy, and then a single infusion of the study product. You will have follow-up evaluations at specific intervals for up to 5 years after treatment.
Compensation
Not stated in the trial record.
Follow-up
Participants will have follow-up evaluations for 5 years after treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06325709

Base Editing for Mutation Repair in Hematopoietic Stem & Progenitor Cells for X-Linked Chronic Granulomatous Disease

Recruiting
PHASE1Ages 18–75InterventionalTreatment
National Institute of Allergy and Infectious Diseases (NIAID)
~15 participants
Updated 2026-08-13 on ClinicalTrials.gov
What's tested:CampathSirolimusBase-edited hematopoietic stem and progenitor cellsBusulfanPaliferminFilgrastim

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To evaluate the safety of base-edited autologous CD34+ cells
Measured over Initiated from the time of the infusion of base-edited cells through 2 years post-infusion
+1 more outcome measured

Conditions

Chronic Granulomatous Disease (CGD)
X-Linked Chronic Granulomatous Disease

Explore related trials

X-linked Chronic Granulomatous DiseaseCYBB Gene

NCT06325709

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Suk S De Ravin, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Suk S De Ravin, M.D.
[email protected]
(301) 496-6772
Email the study team

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Eligibility criteria

Inclusion

\>= 18 years of age.
Confirmed CYBB c.676 C\>T mutation.
Male patients.
Clinically stable and eligible to undergo apheresis and conditioning chemotherapy.
\>=5 x 10\^6 cryopreserved cells/kg body weight available for study product manufacturing.
History of at least one prior serious infection or inflammatory complication requiring hospitalization despite conventional therapy.
In the experience of a qualified clinical investigator, the patient has a poor prognosis.
Able and willing to use a highly effective method of contraception, AND partner has communicated her willingness through subject to do same, if engaging in potentially reproductive sex from the signing of the informed consent and for 6 months after IMP infusion. Acceptable methods of contraception include the following:
Hormonal contraception in continuously effective use by female partner.
Male or female condom with spermicide as indicated.
Diaphragm or cervical cap in consistent and effective pattern of use with a spermicide by female partner.
Intrauterine device in-situ throughout above period by female partner.

Exclusion

Untreated, acute infection.
Elevated anti-gp91 specific autoantibodies \>2 x ULN
Elevated anti-gp91 specific T cells (\>10 fold)
Anti-platelet antibody screening with \>1 anti-platelet antibody positive in the presence of an ongoing brain infection; OR \>1 anti-platelet antibody positive and considered unsafe for study participation after consultation with hematology specialist.
Known hypersensitivity to busulfan or any component of the product.
Contraindications for administration of busulfan.
Any current or pre-existing hematologic malignancy.
Chronic infections that are considered unsafe for participation in the study by Infectious Disease Consultant.
Cardiac abnormalities and neurological abnormalities that are deemed unsafe to participate in the study.
Childhood malignancy (occurring before 18 years of age) in the patient or a first degree relative, or previously diagnosed known genotype of the participant conferring a predisposition to cancer (no DNA or other testing for cancer predisposition genes will be performed as part of the screen for this protocol).
Hematological parameters unsafe for apheresis or above Grade 2 Common Terminology Criteria for Adverse Events (CTCAE) criteria until improved.
Hepatic dysfunction- alanine aminotransferase (ALT \>3.0 - 5.0 x upper limit of normal \[ULN\]), aspartate aminotransferase (AST \>3.0 - 5.0 x ULN), bilirubin (\>1.5 - 3.0 x ULN).
Renal dysfunction-serum creatinine \>1.5 - 3.0 x ULN or creatinine clearance 59-30 mL/min/1.73 m\^2.
Coagulation dysfunction- Prothrombin INR or Partial thromboplastin time \>2 x ULN (patients on controlled anticoagulation agents will not be excluded for therapeutic levels).
Uncontrolled hypertension- Systolic BP 140-159 mm Hg or diastolic BP 90-99 mm Hg.
Abnormal blood chemistries- Hyperkalemia (K \>5.5 - 6.0 mmol/L), Hypokalemia (\<LLN - 3.0 mmol/L and requiring intervention); OR Hypercalcemia (corrected serum calcium \>11.5 - 12.5 mg/dL), Hypocalcemia (corrected serum calcium \<8.0 -7.0 mg/dL)
Cytogenetic abnormalities evidenced on bone marrow aspirate.
Pulmonary dysfunction FEV1\<25% predicted.
Previous treatment with gene therapy or gene editing products.
Previous receipt of non-HLA matched donor granulocyte transfusions.
Any other condition that, in the opinion of the investigator, may unduly compromise the safety or compliance of the patient, or would make successful study completion highly unlikely.
Unwilling to submit their information as part of the alemtuzumab (Campath(R)) Distribution Program application or the Distribution Program committee has determined the participant is not qualified to receive alemtuzumab.

What this trial measures

  • To evaluate the safety of base-edited autologous CD34+ cellsInitiated from the time of the infusion of base-edited cells through 2 years post-infusion

    Safety of gene therapy using base-edited autologous hematopoietic stem and progenitor cells as measured by study agent related adverse events and serious adverse events

  • To evaluate the efficacy of base-edited autologous CD34+ cellsAssessed 12 months post-infusion of base-edited cells

    Efficacy of gene therapy as determined by percentages ofparticipants who have \>= 10 percent oxidase-positive granulocytes