MedPath

CD4^LVFOXP3 in Participants With IPEX

Phase 1
Recruiting
Conditions
IPEX
Interventions
Registration Number
NCT05241444
Lead Sponsor
Bacchetta, Rosa, MD
Brief Summary

This first-in-human, Phase 1 clinical trial will test the feasibility of the manufacturing and the safety of the administration of CD4\^LVFOXP3 in up to 30 evaluable human participants with IPEX and evaluate the impact of the CD4\^LVFOXP3 infusion on the disease.

Detailed Description

Treatment with CD4\^LVFOXP3 is expected to replace the defective Treg cells of the participants, and restore control of the immune system and therefore ameliorate symptoms of IPEX.

We expect to learn the following from this study:

1. That CD4\^LVFOXP3 can be consistently produced and be of expected quality to be used in humans,

2. That CD4\^LVFOXP3 are safe in children and young adults with IPEX, and determine its effects, both good and bad,

3. That CD4\^LVFOXP3 can improve overall health and allow reduction of medication/s.

This Phase 1 (feasibility and safety) trial will gather data about CD4\^LVFOXP3 in vivo persistency and early signs of impact on symptoms of IPEX.

Recruitment & Eligibility

Status
RECRUITING
Sex
Male
Target Recruitment
30
Inclusion Criteria
  • Body weight greater than 8 kg, unless assessed as able to tolerate leukapheresis
  • FOXP3 gene mutation
  • Medical history of progressive symptoms of IPEX with persistency of some symptoms and/or signs requiring immune suppressive medication. The participant may or may not be on immunosuppression at time of starting the study.
  • Uncontrolled IPEX disease but unable to tolerate immune suppressive medication
  • Recurrent IPEX symptoms, requiring immune suppressive medications, in participants who have had prior allogeneic (allo) blood stem cell transplantation (HSCT).
  • ≥ 50% Performance rating on Lansky/Karnofsky Scale
  • Organ and marrow function within acceptable levels of function
  • Absence of ongoing infections
  • Must be able to consent if an adult
Exclusion Criteria
  • Medical instability
  • Less than 6 months life expectancy
  • Inability to meet limits for steroid dosing
  • Eligible for an HLA matched sibling or matched unrelated donor blood stem cell transplant, and be willing to undergo transplant.
  • Unrelated or comorbid disease
  • Allergy to any study medication, product, or intervention
  • Currently receiving another experimental treatment
  • History of malignancy, unless disease free for at least 2 years, with the exception of non melanoma skin cancer or carcinoma in situ

Study & Design

Study Type
INTERVENTIONAL
Study Design
SEQUENTIAL
Arm && Interventions
GroupInterventionDescription
Cohort A (≥12 years)CD4^LVFOXP3The first participant in Dose Level 1 will be administered 1.0 x 10\^6 CD4\^LVFOXP3 /kg (± 20%). If there is no toxicity observed in the first participant, the following participants in Dose Level 1 will be administered the same dose of 1.0 x 10\^6 CD4\^LVFOXP3 /kg (± 20%). If there is no toxicity observed in any participants in Dose Level 1, participants will be enrolled into Dose Level 2 and administered 3 x 10\^6 CD4\^LVFOXP3 /kg (± 20%). If there is no toxicity observed in any participants in Dose Level 2, participants will be enrolled into Dose Level 3 and administered 10 x 10\^6 CD4\^LVFOXP3 /kg (± 20%). If in any dose level 1 of 2 participants show toxicity, that dose level will be expanded to 6 participants.
Cohort B (<12 years)CD4^LVFOXP3Participants in Cohort B will always follow treatment of participants in Cohort A for the same dose level. Cohort B will start at Dose Level 2 and be administered 3 x 10\^6 CD4\^LVFOXP3 /kg (± 20%). If there is no toxicity observed in any participants in Dose Level 2, participants will be enrolled into Dose Level 3 and administered 10 x 10\^6 CD4\^LVFOXP3 /kg (± 20%). If in any dose level 1 of 2 participants show toxicity, that dose level will be expanded to 6 participants.
Primary Outcome Measures
NameTimeMethod
Find the safe maximum tolerated doseUp to 60 days post-infusion for each participant

No more than 1 out of 6 participants may experience a related dose limiting toxicity or treatment emergent adverse events.

Meet target cell number for dose manufacturingTime at release from manufacturing (by Day 0 [infusion day] for each participant)

No more than two products fail the target cell dose and established release criteria.

Secondary Outcome Measures
NameTimeMethod
Change in PedsQL Gastrointestinal Symptoms Scale - Quality of LifePre-Infusion; Month 6, 12

Measured with Gastrointestinal Symptoms Scale: minimum value = 0 (never a problem), maximum value = 4 (almost always a problem). Higher scores mean a worse outcome.

Change in Diarrhea incidenceBaseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (daily for the first month followed by monthly at Month 2, 3, 6, 9, 12)

Stool Diary records - extent of diarrhea as measured by frequency and volume of stools, and the presence or absence of blood and/or mucus, and stool studies at specified time points (for all ages).

Change in GI Symptoms - Gastrointestinal Symptoms Rating ScaleBaseline (up to 60 days before infusion of CD4^LVFOXP3) through post-infusion (Week 4, Month 6, Month 12)

Gastrointestinal Symptoms Rating Scale (GSRS) (for patients ≥12 years old).

Change in Body Mass Index (BMI)Baseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 1, 2, 3, Week 1, 2, 3, 4; Month 2, 3, 6, 9, 12)

BMI measured as kg/m\^2.

Change in age-specific percentiles of heightBaseline (up to 60 days before infusion of CD4^LVFOXP3) through post-infusion (Month 12)
Change in age-specific percentiles of bodyweightBaseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 1, 2, 3, Week 1, 2, 3, 4; Month 2, 3, 6, 9, 12)
Change in Bilirubin levelsBaseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 2, Week 1, 2, 3, 4; Month 2, 3, 6, 9 and 12)
Change in Liver Enzyme - Alanine Transaminase (ALT)Baseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 2, Week 1, 2, 3, 4; Month 2, 3, 6, 9 and 12)
Change in Liver Enzyme - Aspartate Transaminase (AST)Baseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 2, Week 1, 2, 3, 4; Month 2, 3, 6, 9 and 12)
Change in Liver Enzyme - Alkaline Phosphatase (ALP)Baseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 2, Week 1, 2, 3, 4; Month 2, 3, 6, 9 and 12)
Change in Liver Enzyme - Gamma Glutyltranspeptidase (GGT)Baseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 2, Week 1, 2, 3, 4; Month 2, 3, 6, 9 and 12)
Change in INR levelBaseline/screening (up to 60 days before infusion of CD4^LVFOXP3) through post-infusion (Week 4; Month 3, 6, 12)

International normalized ratio (INR) to determine prothrombin time.

Skin Disease (EASI) - Changes from Baseline/ Pre-infusionBaseline (up to 60 days before infusion of CD4^LVFOXP3), through post-infusion (Day 1; Week 1, 2, 3, 4; Month 3, 6 and 12)

Scoring of areas of involvement in each anatomical region (area), calculation of intensity using Eczema Area and Severity Index (EASI).

Skin Disease (POEM) - Changes from Baseline/ Pre-infusionBaseline (up to 60 days before infusion of CD4^LVFOXP3), through post-infusion (Day 1; Week 1, 2, 3, 4; Month 3, 6 and 12)

Scoring of areas of involvement in each anatomical region (area), calculation of intensity using Patient oriented eczema measure (POEM).

Skin Disease (PASI) - Changes from Baseline/ Pre-infusionBaseline (up to 60 days before infusion of CD4^LVFOXP3), through post-infusion (Day 1; Week 1, 2, 3, 4; Month 3, 6 and 12)

Changes in the extent (%) and severity of skin lesions and their complications (i.e. infections, atrophy, itching) using Psoriasis Area and Severity Index (PASI).

Skin Disease (MTLSS) - Changes from Baseline/ Pre-infusionBaseline (up to 60 days before infusion of CD4^LVFOXP3), through post-infusion (Day 1; Week 1, 2, 3, 4; Month 3, 6 and 12)

Changes in the extent (%) and severity of skin lesions and their complications (i.e. infections, atrophy, itching) using Modified Total Lesional Sign Score (MTLSS).

Change in skin barrier functionBaseline (up to 60 days before infusion of CD4^LVFOXP3), through post-infusion (Day 1; Week 1, 2, 3, 4; Month 3, 6 and 12)

Biophysical Skin Evaluation: Skin measurement of transepidermal water loss to monitor skin barrier function and erythema

Change in Hemolytic Anemia (RBC)Baseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 1, 2, 3; Week 1, 2, 3, 4; Month 2, 3, 6, 9, 12)

Measurement of the number of red blood cells (Complete Blood Counts with Differential \[CBCD\]).

Change in Hemolytic Anemia (Reticulocyte)Baseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 1, 2, 3; Week 1, 2, 3, 4; Month 2, 3, 6, 9, 12)

Measurement of the number of reticulocytes.

Change in ThrombocytopeniaBaseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 1, 2, 3; Week 1, 2, 3, 4; Month 2, 3, 6, 9, 12)

Measure the number of platelets (Complete Blood Counts with Differential (CBCD)).

Change in NeutropeniaBaseline (up to 60 days before infusion of CD4^LVFOXP3), pre-infusion through post-infusion (Day 1, 2, 3; Week 1, 2, 3, 4; Month 2, 3, 6, 9, 12)

Measure the number of neutrophils (Complete Blood Counts with Differential \[CBCD\]).

Change in C-peptide - Type 1 diabetes Pre-onsetBaseline taken 60-30 days before infusion of CD4^LVFOXP3; Post-infusion (Week 4, Month 3, 6 and 12).
Change in HbA1c - Type 1 diabetes Pre-onsetBaseline taken 60-30 days before infusion of CD4^LVFOXP3; Post-infusion (Week 4, Month 3, 6 and 12).
Change in Daily insulin requirement - Type 1 diabetes monitoringBaseline taken 60-30 days before infusion of CD4^LVFOXP3 and post-infusion (over 7 consecutive days preceding each study visit);

Mean daily insulin use recorded over 7 consecutive days preceding each evaluation timepoint for patients with Type 1 Diabetes.

Change in hyper-/hypo-glycemic events - Type 1 diabetes monitoringBaseline taken 60-30 days before infusion of CD4^LVFOXP3 and post-infusion (over 7 consecutive days preceding each study visit);

Continuous glucose monitoring (CGM) metrics to log episodes of hyper/hypoglycemic events.

Change in Autoantibody ProfileScreening/ Baseline, Post-infusion (Month 6 and 12)

Measure autoantibodies to organs involved in the disease (participant-specific): anti-insulin (IAA), anti-islet antigens (IA), anti-glutamic acid decarboxylase (GAD), anti-zinc transporter8 (ZNT8), anti-islet cells (ICA), anti-liver kidney microsome (LKM), anti-thyroperoxidase (TPO), anti-thyroglobulin (TG), anti-enterocytes, anti-SMA

Change in Creatinine as a measure of Kidney FunctionBaseline taken 60-30 days before infusion of CD4^LVFOXP3, Pre-infusion, Week 1, 2, 3, 4; Month 2, 3, 6, 9 and 12

Measure kidney functional parameters, i.e., creatinine, in the blood and urine.

Change in PedsQL General Well-Being Scale - Quality of LifePre-Infusion; Month 6, 12
Change in PedsQL Generic Core Scale - Quality of LifePre-Infusion; Month 6, 12
Disease-free Survival - Changes from BaselineUp to 15 years

The length of time from cell infusion to the point at which the participant survives without any new or worsening of existing signs or symptoms of disease. The data will be compared with historical disease-free survival probability. Probability of disease-free survival will be computed with the use of Kaplan-Meier estimator.

Overall Survival - Changes from BaselineUp to 15 years

Participant survival

Trial Locations

Locations (1)

Lucile Packard Children's Hospital

🇺🇸

Palo Alto, California, United States

© Copyright 2025. All Rights Reserved by MedPath