Studio di follow‑up a lungo termine sulla sicurezza di AAV rh79 con gene OTC umano e AAV rh79 con meganucleasi per editing del gene PCSK9 in pazienti con deficit di OTC

Baseline Assessment

After joining the study, you undergo a series of baseline measurements. Physical exam includes height, weight and general Health check.

Vital signs such as blood pressure and heart rate are recorded.

A neurologic exam evaluates nervous system function.

Blood samples are taken for safety tests: hematology, serum chemistry, liver function, coagulation and measurement of serum PCSK9.

Urine is collected for a urinalysis and a 12‑lead ECG records heart activity.

Administration of investigational product

You receive an intravenous infusion of the study drug. The product is either ECUR-506d (adenovirus vector carrying the human OTC gene) or ECUR-506a (adenovirus vector carrying a meganuclease for PCSK9 editing).

The infusion is given through a vein; the exact dose is defined by the study protocol and is not repeated.

The infusion is administered as a single session; no daily or weekly dosing is required.

Immediate post‑infusion monitoring

After the infusion you are observed for a short period. Vital signs are checked regularly to detect any immediate reaction.

If any signs of discomfort appear, additional medical Evaluation is performed.

Regular long‑term follow‑up visits

Throughout the study you attend scheduled visits. At each visit the same set of examinations performed at baseline is repeated:

Physical exam with height and weight measurement,

Vital signs,

Neurologic exam,

Blood safety tests (including PCSK9, ammonia, citrulline and glutamine),

Urinalysis,

12‑lead ECG.

These visits continue for the duration of the long‑term follow‑up period.

Collection of biological samples for vector monitoring

At designated visits you provide samples of blood, saliva, urine and stool. These are analyzed to detect the presence of the viral vector (vector PK) and any shedding of genetic material.

Reporting of hyperammonemic episodes

If you experience symptoms of a hyperammonemic crisis (such as vomiting, lethargy or confusion), you inform the study team and receive medical care.

Hospitalizations are recorded, including duration, need for intensive care and any treatments such as intravenous scavenger therapy or hemodialysis.

Developmental Assessment (for Pediatric participants)

Children are evaluated with age‑appropriate developmental tests, such as the Bayley scale of infant development IV or the kaufman Assessment Battery for Children – second Edition normative update.

Final end‑of‑study Evaluation

At the conclusion of the follow‑up period a Comprehensive Evaluation is performed. All previous examinations are repeated and the collected data are reviewed to assess long‑term safety.