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Open-label Gene Therapy Study in p47-CGD

14 de setembro de 2026 atualizado por: 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.

Visão geral do estudo

Status

Recrutamento

Intervenção / Tratamento

Tipo de estudo

Intervencional

Inscrição (Estimado)

5

Estágio

  • Fase 2
  • Fase 1

Contactos e Locais

Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.

Locais de estudo

      • Ulm, Alemanha, 89075
        • Ainda não está recrutando
        • Universitaetsklinikum Ulm
        • Contato:
      • Barcelona, Espanha, 08035
        • Ainda não está recrutando
        • Hospital Universitari Vall D Hebron
        • Contato:
      • Zurich, Suíça, 8008
        • Recrutamento
        • University Children's Hospital Zurich
        • Contato:

Critérios de participação

Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.

Critérios de elegibilidade

Idades elegíveis para estudo

  • Filho
  • Adulto
  • Adulto mais velho

Aceita Voluntários Saudáveis

Não

Descrição

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.

Plano de estudo

Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.

Como o estudo é projetado?

Detalhes do projeto

  • Finalidade Principal: Tratamento
  • Alocação: N / D
  • Modelo Intervencional: Atribuição de grupo único
  • Mascaramento: Nenhum (rótulo aberto)

Armas e Intervenções

Grupo de Participantes / Braço
Intervenção / Tratamento
Experimental: 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

O que o estudo está medindo?

Medidas de resultados primários

Medida de resultado
Descrição da medida
Prazo
Incidence of safety events following a single administration of SGX-001
Prazo: 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
Prazo: 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

Colaboradores e Investigadores

É aqui que você encontrará pessoas e organizações envolvidas com este estudo.

Patrocinador

Datas de registro do estudo

Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados ​​pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.

Datas Principais do Estudo

Início do estudo (Real)

18 de agosto de 2026

Conclusão Primária (Estimado)

1 de julho de 2028

Conclusão do estudo (Estimado)

1 de setembro de 2028

Datas de inscrição no estudo

Enviado pela primeira vez

7 de setembro de 2026

Enviado pela primeira vez que atendeu aos critérios de CQ

14 de setembro de 2026

Primeira postagem (Real)

17 de setembro de 2026

Atualizações de registro de estudo

Última Atualização Postada (Real)

17 de setembro de 2026

Última atualização enviada que atendeu aos critérios de controle de qualidade

14 de setembro de 2026

Última verificação

1 de setembro de 2026

Mais Informações

Termos relacionados a este estudo

Palavras-chave

Outros números de identificação do estudo

  • SGX-001-CT-01
  • 2025 (Concessão/Contrato do NIH dos EUA: Faculty of Social Sciences Scientific Grant at the University of Gdańsk)
  • 2025-524423-50-00 (Ctis)
  • 702243 SGX-001-CT-01 (Outro identificador: Swissmedic)

Plano para dados de participantes individuais (IPD)

Planeja compartilhar dados de participantes individuais (IPD)?

SIM

Informações sobre medicamentos e dispositivos, documentos de estudo

Estuda um medicamento regulamentado pela FDA dos EUA

Não

Estuda um produto de dispositivo regulamentado pela FDA dos EUA

Não

Essas informações foram obtidas diretamente do site clinicaltrials.gov sem nenhuma alteração. Se você tiver alguma solicitação para alterar, remover ou atualizar os detalhes do seu estudo, entre em contato com register@clinicaltrials.gov. Assim que uma alteração for implementada em clinicaltrials.gov, ela também será atualizada automaticamente em nosso site .

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