Analysis of patients with arginase 1 deficiency treated with Loargys in standard clinical care enrolled in a European, non-interventional, multicentre registry

Study type

• Study topic:
  Human medicinal product
• Study type:
  Non-interventional study
• Scope of the study:
  Drug utilisation

  Effectiveness study (incl. comparative)
• Data collection methods:
  Primary data collection

Non-interventional study

• Non-interventional study design:
  Cohort

Study drug and medical condition

• Medicinal product name:
  LOARGYS
• Study drug International non-proprietary name (INN) or common name:
  PEGZILARGINASE
• Anatomical Therapeutic Chemical (ATC) code:
  (A16AB24) pegzilarginase

  pegzilarginase
• Medical condition to be studied:
  Arginase deficiency

Population studied

• Short description of the study population:
  Adult and paediatric patients enrolled in the E-IMD registry with a confirmed diagnosis of ARG1-D
• Age groups:
  • Paediatric Population (< 18 years)

    • Infants and toddlers (28 days – 23 months)
    • Children (2 to < 12 years)
    • Adolescents (12 to < 18 years)
  • Adult and elderly population (≥18 years)
• Estimated number of subjects:
  15

Study design details

• Study design:
  This PAES is conducted in collaboration with E-IMD that will analyse the ARG1-D population of the pre-existing and active registry held by the E-IMD.The E-IMD international, multicentric, observational registry collects health data generated during the routine care of patients with UCD, incl. ARG1-D
• Main study objective:
  The objective of the study is to evaluate the long-term effectiveness of Loargys treatment in patients with ARG1-D in standard clinical care
• Setting:
  European E-IMD centres treating patients with ARG1-D.
• Outcomes:
  Study endpoints ; Primary endpoint: ; • Description of plasma arginine levels over time ; Secondary endpoints: ; • Clinical neuromotor outcomes over time (GMFCS level, muscle strength and tone, gross motor exam, six gross motor development milestones, fine motor exam, balance exam, movement exam) ; • Occurrence of seizures over time ; • Change in EEG ; • Clinical neurocognitive outcomes over time (BSID-II/III, Denver Test, WAIS-IV, WISC-IV, WPPSI-III) ; • Change in quality of Life (PedsQL, WHOQOL) ; • Hospitalisations (number, length, reason) over time ; • Change in growth (height, weight) ; • Plasma ammonia levels over time ; • Occurrence of hyperammonaemic episodes over time (as defined below). ; • Description of Loargys prescribed dose, route and exposure (start/stop; reason for stopping); • Change in dietary protein (natural amino acid supplements) and calories intake and correlation with Loargys treatment ; • Change in nitrogen scavenger treatment, dose, duration of exposure and correlation with Loargys treatment.