Studio di sicurezza di cellule CD34+ autologhe transdotte con vettore lentivirale NCF1 in pazienti pediatrici e adulti con malattia granulomatosa cronica p47‑CGD

Baseline Assessment

After enrollment, a series of baseline examinations is performed to record the current Health status. This includes blood tests, physical Examination, vital‑sign measurement, and a 12‑lead electrocardiogram (ECG).

The results serve as reference points for all later comparisons during the study.

Myeloablative conditioning

Several days before the cell infusion, a short course of intensive chemotherapy, called myeloablative conditioning, is given. The purpose is to erase the existing bone‑marrow cells so that the infused stem cells can engraft.

The exact drugs and Schedule are defined by the study protocol and are administered in the hospital under medical supervision.

Cell infusion (sgx-001)

Once conditioning is completed, a single intravenous infusion of autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene (product name sgx-001) is administered.

The cells are taken from the Patient’s own blood, modified in the laboratory, and then delivered as a sterile solution for infusion. The infusion is performed once, and no repeated doses are planned.

Immediate post‑infusion monitoring

Right after the infusion, the Patient remains in the hospital for close observation. Vital signs, electrocardiogram, and laboratory values are checked repeatedly to detect any early adverse reactions.

Physical examinations are also performed according to the study Schedule.

In‑Patient Recovery and early safety checks

The Patient stays in the hospital for several weeks to allow Recovery of blood counts. Specific milestones are monitored, such as the return of neutrophils (a type of White blood cell) by day 42 and the Recovery of platelets by month 12.

During this period, safety assessments continue, including recording of any adverse events, laboratory tests, and physical examinations.

Out‑Patient follow‑up visits

After discharge, the Patient attends scheduled outpatient visits at month 1, month 2, month 3, month 6, month 9, and month 12.

At each visit, blood samples are taken to Measure NADPH oxidase activity (the function that is deficient in the disease) and to assess the level of the introduced gene (transgene) in blood and bone‑marrow cells.

Additional safety evaluations include laboratory tests, vital‑sign checks, electrocardiograms, and physical examinations.

Month 12 comprehensive Evaluation

At the final month‑12 visit, the primary efficacy Outcome is assessed: a successful response is defined as at least 10 % of peripheral‑blood granulocytes (a type of immune cell) showing restored NADPH oxidase activity.

Secondary assessments include overall survival, infection rates, need for antibacterial or antifungal prophylaxis, and quality‑of‑life questionnaires.

All collected data are used to determine the safety and tolerability of the single administration of sgx-001.