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Open-label Gene Therapy Study in p47-CGD

2026年9月14日 更新者:Somagenetix AG

An Open-label, Single-arm, Phase 1/2 First-in-human Study to Assess the Safety and Efficacy of Autologous CD34+ Cells Transduced With a Lentiviral Vector Encoding the Human NCF1 Gene (SGX-001) in Paediatric and Adult Patients With Chronic Granulomatous Disease Caused by p47phox Deficiency

Chronic granulomatous disease (CGD) caused by p47phox deficiency (p47-CGD) is a life-threatening genetic disorder causing nicotinamide adenine dinucleotide phosphate (NADPH) oxidase deficiency in phagocytes. This leads to severe bacterial and fungal infections as well as hyperinflammatory complications that significantly reduces life expectancy.

Standard of care includes daily antimicrobial prophylactic treatment by conventional pharmacotherapy. This aims to prevent or reduce the frequency and severity of infections and other disease manifestations. However, the underlying genetic defect in neutrophil cytosolic factor 1 (NCF1) cannot be cured by pharmacotherapy, and many p47-CGD patients suffer from significant morbidity, impaired quality of life, and early mortality. Allogeneic haematopoietic stem cell transplant (HSCT), the only established curative treatment and carries substantial risks when using non-sibling donors. Risks include graft failure and graft-versus-host disease.

Treatment with SGX-001 aims to cure the underlying genetic defect using autologous haematopoietic stem and progenitor cells (HSPCs) transduced with a lentiviral self-inactivating vector to express transgenic p47phox protein and restore NADPH oxidase function in phagocytes. This treatment eliminates the need for allogeneic HSCT and could offer a safer alternative to allogeneic transplantation for patients without ideal donors.

In this study, safety and efficacy of SGX-001 will be investigated in participants with p47-CGD who have an indication for allogeneic HSCT but lack a human leukocyte antigen-matched suitable sibling donor.

研究概览

地位

招聘中

干预/治疗

研究类型

介入性

注册 (估计的)

5

阶段

  • 阶段2
  • 阶段1

联系人和位置

本节提供了进行研究的人员的详细联系信息,以及有关进行该研究的地点的信息。

学习地点

      • Ulm、德国、89075
      • Zurich、瑞士、8008
        • 招聘中
        • University Children's Hospital Zurich
        • 接触:
      • Barcelona、西班牙、08035
        • 尚未招聘
        • Hospital Universitari Vall D Hebron
        • 接触:

参与标准

研究人员寻找符合特定描述的人,称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 孩子
  • 成人
  • 年长者

接受健康志愿者

不

描述

Inclusion Criteria:

Participants are eligible to be included in the study only if all of the following criteria apply:

  1. Properly completed and signed informed consent or assent (participant/legally authorised representative).
  2. Confirmed diagnosis of CGD due to p47phox deficiency (confirmed mutation in the NCF1 gene by molecular genetic testing).
  3. Absent or > 95% reduced biochemical activity of NADPH oxidase in a dihydrorhodamine (DHR) flow cytometric test.
  4. Male or female aged ≥ 18 months and have a body weight ≥ 10 kg at the time of signing the informed consent or assent.
  5. One or more ongoing or recurrent severe infectious and/or inflammatory complications, at the discretion of the Investigator.

    Note: Participants must not have an uncontrolled active infection at the time of screening or apheresis. Infectious or inflammatory complications should be clinically stable (e.g., afebrile, hemodynamically stable, and on appropriate antimicrobial/anti-inflammatory therapy if indicated) before initiation of screening procedures and prior to leukapheresis.

  6. Lack of an available 10/10 HLA-matched (A, B, C, DR, DQ) sibling donor suitable for HSCT.
  7. Ability to return to the study site for follow-up during the 1-year on-study, and to the local HSCT site during the off-protocol monitoring period.
  8. Female participants of childbearing potential must have a negative serum pregnancy test result performed within 3 days prior to starting each cycle of mobilisation and within 5 days prior to infusion of busulfan and must not be pregnant, lactating, or planning a pregnancy from Screening to Month 12 after SGX-001 administration.

    Note: Female participants of childbearing potential will be included if they are either sexually inactive (abstinent) for 90 days prior to starting the first cycle of mobilisation, or are using a highly effective birth control methods (i.e., results in < 1% failure rate when used consistently and correctly).

    Note: Sexual abstinence or use of contraceptive measures must continue throughout the study and for 12 months after the administration of SGX-001.

  9. Male participants with female partners of childbearing potential must use highly effective methods of birth control during their participation in the study and for 12 months after the administration of SGX-001.
  10. Willingness and ability of the participant (or a legally authorised representative, as applicable) to comply with long-term follow-up requirements for a total duration of up to 15 years after administration of SGX-001 through participation in a dedicated LTFU study.

Exclusion Criteria:

Participants are excluded from the study if any of the following criteria apply:

  1. Participant or parent/legal guardian is unable or unwilling to comply with the protocol requirements.
  2. Availability of a willing 10/10 HLA-matched (A, B, C, DR, DQ) sibling donor unless there is an unacceptable risk associated with an allogeneic HSCT procedure.
  3. Previous allogeneic HSCT.
  4. Pregnancy or lactation.
  5. Contraindications to any of the following:

    1. CD34+ cell mobilisation procedure (haemoglobin < 8 g/dL, cardiovascular instability, severe coagulopathy).
    2. Apheresis procedure.
    3. Conditioning regimen.
  6. Contraindication for administration of filgrastim, lenograstim, plerixafor, busulfan, or any component of the study intervention.
  7. Concomitant human immunodeficiency virus (HIV1 or HIV2), hepatitis B virus (HBV), hepatitis C virus (HCV), adenovirus, parvovirus B19, human T-lymphotropic virus (HTLV1 2), or toxoplasmosis infection.
  8. Evidence of active metastatic or locoregionally advanced malignancy (including haematologic malignancy) for which survival is anticipated to be less than 3 years.
  9. Significant organ dysfunction/co-morbidity, including but not limited to: mechanical ventilation, shortening fraction on echocardiogram < 25%, renal failure (defined as dialysis dependence), uncontrolled seizure disorder, major congenital anomaly, expected survival < 6 months.
  10. Inability to stop using IFN gamma at least 30 days prior to administration of the study intervention.
  11. Participation in another interventional clinical study within 6 months prior to enrolment.
  12. Presence of any condition that, in the opinion of the Investigator, may compromise the safety or compliance of the participant or would preclude the participant from successful completion of the study or would interfere with interpretation of the study results.

学习计划

本节提供研究计划的详细信息,包括研究的设计方式和研究的衡量标准。

研究是如何设计的?

设计细节

  • 主要用途:治疗
  • 分配:不适用
  • 介入模型:单组作业
  • 屏蔽:无(打开标签)

武器和干预

参与者组/臂
干预/治疗
实验性的:SGX-001
All eligible participants will be assigned to a single active treatment group and receive infusion of SGX-001.
Autologous CD34+ cell-enriched population that contains HSPCs transduced with a lentiviral vector encoding the human NCF1 gene

研究衡量的是什么?

主要结果指标

结果测量
措施说明
大体时间
Incidence of safety events following a single administration of SGX-001
大体时间:12 months
Safety and tolerability of a single administration of autologous CD34⁺ HSPCs transduced with a lentiviral vector (SGX-001) in participants with p47-CGD will be assessed based on the incidence of treatment-emergent adverse events (TEAEs), serious adverse events (SAEs), SAEs related to SGX-001, adverse events of special interest (AESIs), TEAEs by intensity grade, and discontinuations due to TEAEs, as well as clinical laboratory abnormalities, vital signs, 12-lead ECGs, and physical examination findings. Safety endpoints will be presented overall and/or by study stage or visit, as applicable. Laboratory abnormalities will be graded according to NCI CTCAE version 6.0.
12 months
Number of participants with a response to SGX-001 based on NADPH oxidase activity in peripheral blood granulocytes
大体时间:12 months
Efficacy of a single administration of autologous CD34⁺ HSPCs transduced with a lentiviral vector (SGX-001) in participants with p47-CGD will be assessed based on the proportion of peripheral blood granulocytes with detectable NADPH oxidase activity. Participants will be considered responders if NADPH oxidase activity is present in ≥10% of peripheral blood granulocytes and non-responders if NADPH oxidase activity is present in <10% of peripheral blood granulocytes. The outcome will be summarized as the number and percentage of participants with a response.
12 months

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查,以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2026年8月18日

初级完成 (估计的)

2028年7月1日

研究完成 (估计的)

2028年9月1日

研究注册日期

首次提交

2026年9月7日

首先提交符合 QC 标准的

2026年9月14日

首次发布 (实际的)

2026年9月17日

研究记录更新

最后更新发布 (实际的)

2026年9月17日

上次提交的符合 QC 标准的更新

2026年9月14日

最后验证

2026年9月1日

更多信息

与本研究相关的术语

关键字

其他研究编号

  • SGX-001-CT-01
  • 2025 (美国 NIH 拨款/合同:Faculty of Social Sciences Scientific Grant at the University of Gdańsk)
  • 2025-524423-50-00 (克蒂斯)
  • 702243 SGX-001-CT-01 (其他标识符:Swissmedic)

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)?

是的

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

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