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Study Evaluating a Gene Therapy for IPEX Syndrome Through the Expression of FOXP3 on Deficient T Cells to Produce Tregs-like. (THERIPEX)

6 luglio 2026 aggiornato da: Assistance Publique - Hôpitaux de Paris

A Phase I/II Open-label, Non-randomized, Monocentric, Single-arm Study Evaluating the Safety and Efficacy of Induced CD4+ Treg by LV Vector Transduction Expressing the FOXP3 cDNA (FOXP3-T4) in Patients With IPEX Syndrome

The purpose of this study is to evaluate the safety and efficacy of FOXP3-T4 (an autologous gene therapy) alone or in combination with low-dose IL-2 for the treatment of IPEX syndrome. The therapy involves the transplantation of autologous CD4+ T-cells transduced ex vivo with the LV-EF1a-FOXP3-LNGFR lentiviral vector. The study follows a staggered approach: the first two patients will receive FOXP3-T4 monotherapy. Subsequent patients will receive FOXP3-T4 followed if needed by low-dose IL-2 treatment consisting of a daily dose for 5 days, then weekly administrations for 3 months.

The study aims to stabilize autoimmune manifestations and potentially cure the underlying disease, ultimately allowing for the discontinuation of ongoing immunosuppressive treatments.

Panoramica dello studio

Descrizione dettagliata

IPEX syndrome is a primary immunodeficiency caused by hemizygous mutations in the gene FOXP3, which encodes an essential transcription factor required to maintain immunological tolerance by thymus-derived regulatory T (Treg) cells. The most common presentation suggestive of the diagnosis of IPEX syndrome is the classical triad of enteropathy, type I diabetes (TID), and eczema in neonatal onset. Still, it is now well established that IPEX syndrome comprises a broad spectrum of clinical manifestations with different degrees of severity and evolution.

Currently, the only curative treatment for the severe form is allogeneic hematopoietic stem cell transplantation (HSCT). However, because of its significant toxicity, it can be proposed only for more severe presentations and when an HLA identical donor is available. Moreover, the post-HSCT prognosis is also linked to prior disease activity and organ failures.

This clinical study aims to assess a new therapeutical strategy consisting of the conversion of the IPEX patient's CD4+T-cells into functional Treg-like cells by transducing them with an optimized bidirectional lentivirus vector expressing human FOXP3 and a truncated form of the low-affinity nerve growth factor receptor (ΔLNGFR) allowing the selection of the transduced cells. To favour Treg-like cells engraftment and expansion, the FOXP3-T4 infusion may be combined with subcutaneous injection of low-dose IL-2, if needed. Injecting FOXP3-T4 T-reg-like cells into IPEX patients is expected to stably improve the autoimmune manifestations and even cure the underlying disease, allowing the ongoing immunosuppressive treatments to be stopped.

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.

Contatto studio

  • Nome: Marina CAVAZZANA, MD, PhD
  • Numero di telefono: + 33 01 44 49 50 68
  • Email: m.cavazzana@aphp.fr

Backup dei contatti dello studio

Luoghi di studio

    • Île-de-France Region
      • Paris, Île-de-France Region, Francia, 75015
        • Department of Biotherapy, Hopital Necker Enfants malades
        • 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

Accetta volontari sani

No

Descrizione

Inclusion Criteria:

  • Male patients only
  • Patients aged from 1 - 45 years of age (the first three patients will be aged between 10 - 45 years of age)
  • Patient with IPEX syndrome caused by mutation of the FOXP3 gene
  • Patients are eligible from the second line of treatment onward, even those under controlled disease
  • Patient with recurrent IPEX symptoms, under immune suppressive medications
  • Patient for whom HSCT is not feasible or when no suitable compatible donor is available
  • Patients who have had prior allogeneic blood stem cell transplantation (HSCT) with engraftment failure defined as no intake of donor cells
  • Patient or parental, guardian's patient signed informed consent
  • Male participants of reproductive potential with a partner of childbearing potential (WOCBP): willing to use an effective method of contraception during the trial and for at least 12 months post-infusion
  • Affiliation to a French or European social security scheme

Exclusion Criteria:

  • Unwillingness to return for follow-up during the 2-year study and during the 15 years of long term follow up study.
  • Patient with short life expectancy
  • Patient on AME (state medical aid) (unless exemption from affiliation).
  • Diagnosis of a significant psychiatric disorder of the patient that could seriously impede the ability to participate in the study.
  • Eligible for an HLA matched sibling or matched unrelated donor blood stem cell transplant (HLA 10/10) and be willing to undergo transplant.
  • Patients with uncontrolled or ongoing active infections.
  • HIV-1 or 2 or HTLV-1 infections.
  • Patients with severe IPEX clinical presentation needing a rapid allogeneic HSCT treatment within 3 months.
  • Patients with known history of hypersensitivity to IL-2 or any component of the formulation (mannitol, sodium lauryl sulfate, monosodium phosphate dehydrate, disodium phosphate dehydrate, glucose.

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: FOXP3-T4 drug product
FOXP3-T4 is a genetically modified cell therapy product consisting of autologous CD4+ T-cells transduced ex vivo with a self-inactivating bidirectional lentiviral vector (LV-EF1a-FOXP3-LNGFR) expressing the FOXP3 and LNGFR cDNAs.
Each patient will receive a single IV infusion of FOXP3-T4, autologous gene-modified CD4+ T-transduced ex vivo with a self-inactivating lentiviral vector (LV-EF1a.FOXP3-LNGFR)
The first two patients included in the study will not receive IL-2 treatment. The others will receive the first injection the FOXP3-T4 treatment and if needed IL2-treatment. For IL2 treatment, patients will receive a daily dose for 5 days, followed by an administration per week for 3 months (ILT-101)
Altri nomi:
  • Adeleuskin or IL2

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Frequency of clinical AEs and pathological variations of laboratory parameters
Lasso di tempo: Up to 24 months post-infusion
Number of clinical AEs
Up to 24 months post-infusion
Severity of clinical AEs and pathological variations of laboratory parameters
Lasso di tempo: Up to 24 months post-infusion
Grading will be performed according to the CTCAE (Common Terminology Criteria for Adverse Events) current version. Severity is rated on a scale of Grade 1 (Mild) to Grade 5 (Death).
Up to 24 months post-infusion
Incidence of clinically detectable lymphoproliferation and abnormal clonal dominance
Lasso di tempo: Up to 24 months post-infusion
This is measured via Vector Insertion Site Analysis (VISA)
Up to 24 months post-infusion
Incidence of clinically detectable lymphoproliferation and abnormal clonal dominance
Lasso di tempo: Beyond 3 months to 24 months post-infusion
This is measured by proliferation of LNGFR+ cells
Beyond 3 months to 24 months post-infusion
Detection of Replication-Competent Lentivirus (RCL)
Lasso di tempo: Up to 24 months post-infusion
Up to 24 months post-infusion
Persistence of recirculating LNGFR+among CD4+ T cells
Lasso di tempo: at 3 months post-infusion
Percentage of LNGFR+ among CD4+ T cells
at 3 months post-infusion

Misure di risultato secondarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Persistence of FOXP3-T4 Cells
Lasso di tempo: Up to 24 months post-infusion
Persistence of recirculating LNGFR among CD4+ T cells
Up to 24 months post-infusion
Phenotyping
Lasso di tempo: Up to 24 months post-infusion
Deeper phenotyping of FOXP3-T4 (CD4+LNGFR+ CD25+ FOXP3+ CD127low)
Up to 24 months post-infusion
Vector Copy Number (VCN) Analysis
Lasso di tempo: Up to 24 months post-infusion
Quantification of the transgene copy number (VCN) on drug product and on sorted T-CD4+
Up to 24 months post-infusion
Immunophenotyping T and B cells if no change is detected from the baseline (e.g. before treatment), the immunological phenotype
Lasso di tempo: Beyond 3 months to 24 months post-infusion
Beyond 3 months to 24 months post-infusion
TCR repertoire
Lasso di tempo: At 3 months, 12 months and 24 months, post-infusion
Evaluated by NGS before and after the treatment with FOXP3-T4
At 3 months, 12 months and 24 months, post-infusion
Autoantibodies dosage
Lasso di tempo: At 3 months, 6 months, 12 months and 24 months post-infusion
At 3 months, 6 months, 12 months and 24 months post-infusion
Organ-Specific Remission: Skin disease
Lasso di tempo: Up to 24 months post-infusion
Diminution of the skin lesions severity
Up to 24 months post-infusion
Organ-Specific Remission: Skin disease
Lasso di tempo: Up to 24 months post-infusion
Diminution of inflammation in the skin biopsy
Up to 24 months post-infusion
Organ-Specific Remission: Endocrine System Function
Lasso di tempo: Up to 24 months post-infusion
Evaluation of the functions of endocrine glands
Up to 24 months post-infusion
Organ-Specific Remission: Endocrine System Function
Lasso di tempo: Up to 24 months post-infusion
Reduction of insulin dose administrered
Up to 24 months post-infusion
Organ-Specific Remission: Endocrine System Function
Lasso di tempo: Up to 24 months post-infusion
Reduction of HBA1C
Up to 24 months post-infusion
Organ-Specific Remission: Renal function
Lasso di tempo: Up to 24 months post-infusion months
Improvement of creatine and creatine clearance
Up to 24 months post-infusion months
Organ-Specific Remission: Renal function
Lasso di tempo: Up to 24 months post-infusion months
Improvement of proteinuria
Up to 24 months post-infusion months
Organ-Specific Remission: Renal function
Lasso di tempo: Up to 24 months post-infusion months
Improvement of tubular effect
Up to 24 months post-infusion months
Organ-Specific Remission: Digestive System
Lasso di tempo: Up to 24 months post-infusion months
Change in the weight curve
Up to 24 months post-infusion months
Organ-Specific Remission: Digestive System
Lasso di tempo: Up to 24 months post-infusion months
Change in diarrhea incidence
Up to 24 months post-infusion months
Organ-Specific Remission: Digestive System
Lasso di tempo: Up to 24 months post-infusion months
Decrease of fecal calprotectin
Up to 24 months post-infusion months
Organ-Specific Remission: Musculoskeletal System
Lasso di tempo: Up to 24 months post-infusion months
Improvement of arthritis evaluated by physical examination
Up to 24 months post-infusion months
Organ-Specific Remission: Respiratory Function
Lasso di tempo: Up to 24 months post-infusion months
Improvement of asthma evaluated by physical examination
Up to 24 months post-infusion months
Organ-Specific Remission: General status
Lasso di tempo: Up to 24 months post-infusion months
Improvement of performance status : Lansky and Karnofsky scores range from 100 to 10
Up to 24 months post-infusion months
Organ-Specific Remission: Blood count
Lasso di tempo: Up to 24 months post-infusion months
Presence of autoimmune hemolytic anemia
Up to 24 months post-infusion months
Organ-Specific Remission: Blood count
Lasso di tempo: Up to 24 months post-infusion months
Presence of thrombocytopenia
Up to 24 months post-infusion months
Organ-Specific Remission: Eye
Lasso di tempo: Up to 24 months post-infusion months
Improvement of blepheratis evaluated by physical examination.
Up to 24 months post-infusion months
Reduction of Concomitant Therapy
Lasso di tempo: Up to 24 months
Reduction of corticosteroid therapy or immunosuppressive treatment
Up to 24 months

Collaboratori e investigatori

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

Investigatori

  • Cattedra di studio: Emmanuelle SIX, MD, PhD, Institut Imagine

Pubblicazioni e link utili

La persona responsabile dell'inserimento delle informazioni sullo studio fornisce volontariamente queste pubblicazioni. Questi possono riguardare qualsiasi cosa relativa allo studio.

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 (Stimato)

1 settembre 2026

Completamento primario (Stimato)

1 settembre 2028

Completamento dello studio (Stimato)

1 gennaio 2029

Date di iscrizione allo studio

Primo inviato

20 aprile 2026

Primo inviato che soddisfa i criteri di controllo qualità

6 luglio 2026

Primo Inserito (Effettivo)

13 luglio 2026

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

13 luglio 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

6 luglio 2026

Ultimo verificato

1 giugno 2026

Maggiori informazioni

Termini relativi a questo studio

Piano per i dati dei singoli partecipanti (IPD)

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

NO

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 .

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