Retrospective and prospective observational study on the systemic outcomes of lysosomal storage diseases with skeletal involvement in their natural history or during standard of care treatment

Study type

• Study topic:
  Disease /health condition
• Study topic, other:
  lysosomal storage diseases
• Study type:
  Non-interventional study
• Scope of the study:
  Other
• If ‘other’, further details on the scope of the study:
  Natural history and standard of care study

Non-interventional study

• Non-interventional study design:
  Cohort

Study drug and medical condition

• Medical condition to be studied:
  Lysosomal storage disorder

Population studied

• Short description of the study population:
  Adult and pediatric patients with confirmed diagnosis of LSDs presenting skeletal and/or neurological manifestations in accordance with the inclusion/exclusion criteria. ; Inclusion criteria:; 1. Diagnosis of one of the following LSDs with skeletal and/or neurological manifestations from 2005 onwards:; • Mucopolysaccharidosis type II (MPSII); • Mucopolysaccharidosis type IVA (MPSIVA); • GLB1-related disorders (including MPSIVB and GM1 Gangliosidosis); • Mucopolysaccharidosis type VI (MPSVI); • Alpha Mannosidosis (MANN); • Other LSDs, if data are available at the participating center.; 2. Genetically confirmed diagnosis supported by biochemical and/or clinical evidence; 3. Provision of written informed consent for participation in the study and for the processing of personal data; ; Exclusion criteria: ; 1. Patients who, in the opinion of the investigator, do not have enough available data to meet the objectives of the study. ;
• Age groups:
  • In utero
  • Paediatric Population (< 18 years)

    • Neonate

      • Preterm newborn infants (0 – 27 days)
      • Term newborn infants (0 – 27 days)
    • Infants and toddlers (28 days – 23 months)
    • Children (2 to < 12 years)
    • Adolescents (12 to < 18 years)
  • Adult and elderly population (≥18 years)

    • Adults (18 to < 65 years)

      • Adults (18 to < 46 years)
      • Adults (46 to < 65 years)
    • Elderly (≥ 65 years)

      • Adults (65 to < 75 years)
      • Adults (75 to < 85 years)
      • Adults (85 years and over)
• Special population of interest:
  Frail population
• Special population of interest, other:
  Pediatric patients
• Estimated number of subjects:
  100

Study design details

• Study design:
  This is a multicenter, observational study with both retrospective and prospective components, designed to collect and analyze clinical data from patients affected by LSDs with skeletal and/or neurological involvement. ; At least 100 participants from different international centers will be enrolled.
• Main study objective:
  The primary objective is to assess metabolic, skeletal, and neurological outcomes in patients with LSDs over time, using laboratory, clinical, and radiological parameters.; The secondary objective is to evaluate the systemic outcomes of LSDs, such as pulmonary, ocular, auditory, and cardiological manifestations.
• Comparators:
  Not applicable