Prospective observational study of natural history and standard of care in pediatric patients affected by lysosomal storage disorders and diagnosed through newborn screening

Study type

• Study topic:
  Disease /health condition
• Study topic, other:
  Lysosomal storage disorder
• Study type:
  Non-interventional study
• Scope of the study:
  Disease epidemiology

  Other
• If ‘other’, further details on the scope of the study:
  Natural history and standard of care study in patients identified after new born screening
• Data collection methods:
  Primary data collection

Non-interventional study

• Non-interventional study design:
  Case-only

Study drug and medical condition

• Medical condition to be studied:
  Lysosomal storage disorder

  Gaucher's disease

  Mucopolysaccharidosis I

  Mucopolysaccharidosis II

  Mucopolysaccharidosis IV

  Mucopolysaccharidosis VI

  Alpha-mannosidosis

Population studied

• Short description of the study population:
  Pediatric patients with a confirmed diagnosis of Lysosomal storage disorder (LSD) identified through newborn screening (NBS) and referred to participating clinical centers for follow‑up under standard of care.
• Special population of interest:
  Frail population
• Special population of interest, other:
  Newborns
• Estimated number of subjects:
  10

Study design details

• Study design:
  This is a multicenter, observational study with prospective data collection, aimed at evaluating patients during their natural history and/or under standard of care, without modifying routine clinical practice.
• Main study objective:
  Characterize early clinical outcomes of LSD patients diagnosed through NBS, including disease evolution during natural history and under SoC, with a particular focus on skeletal, metabolic and neurological manifestations.
• Setting:
  All patients enrolled
• Comparators:
  None
• Outcomes:
  • Skeletal outcomes assessed through clinical examination, instrumental findings, and functional parameters; • Metabolic outcomes assessed through disease-specific biochemical markers. ; • Neurological outcomes assessed through neurological and development assessments.; All outcomes will be assessed longitudinally both during the natural history phase and, when applicable, after initiation of standard of care treatment.;
• Data analysis plan:
  Descriptive analysis. Categorical and continuous variables will be summarized using standard descriptive statistics. Longitudinal data may be analyzed using either linear or nonlinear mixed effects models, depending on data distribution and feasibility.