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Open-label Gene Therapy Study in p47-CGD

14 settembre 2026 aggiornato da: 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.

Panoramica dello studio

Stato

Reclutamento

Condizioni

Intervento / Trattamento

Tipo di studio

Interventistico

Iscrizione (Stimato)

5

Fase

  • Fase 2
  • Fase 1

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Luoghi di studio

      • Ulm, Germania, 89075
        • Non ancora reclutamento
        • Universitaetsklinikum Ulm
        • Contatto:
      • Barcelona, Spagna, 08035
        • Non ancora reclutamento
        • Hospital Universitari Vall D Hebron
        • Contatto:
      • Zurich, Svizzera, 8008
        • Reclutamento
        • University Children's Hospital Zurich
        • Contatto:

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

  • Bambino
  • Adulto
  • Adulto più anziano

Accetta volontari sani

No

Descrizione

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.

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

  • Scopo principale: Trattamento
  • Assegnazione: N / A
  • Modello interventistico: Assegnazione di gruppo singolo
  • Mascheramento: Nessuno (etichetta aperta)

Armi e interventi

Gruppo di partecipanti / Arm
Intervento / Trattamento
Sperimentale: 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

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Incidence of safety events following a single administration of SGX-001
Lasso di tempo: 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
Lasso di tempo: 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

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Effettivo)

18 agosto 2026

Completamento primario (Stimato)

1 luglio 2028

Completamento dello studio (Stimato)

1 settembre 2028

Date di iscrizione allo studio

Primo inviato

7 settembre 2026

Primo inviato che soddisfa i criteri di controllo qualità

14 settembre 2026

Primo Inserito (Effettivo)

17 settembre 2026

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

17 settembre 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

14 settembre 2026

Ultimo verificato

1 settembre 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

Altri numeri di identificazione dello studio

  • SGX-001-CT-01
  • 2025 (Sovvenzione/contratto NIH degli Stati Uniti: Faculty of Social Sciences Scientific Grant at the University of Gdańsk)
  • 2025-524423-50-00 (Ctis)
  • 702243 SGX-001-CT-01 (Altro identificatore: Swissmedic)

Piano per i dati dei singoli partecipanti (IPD)

Hai intenzione di condividere i dati dei singoli partecipanti (IPD)?

SÌ

Informazioni su farmaci e dispositivi, documenti di studio

Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti

No

Studia un dispositivo regolamentato dalla FDA degli Stati Uniti

No

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .