THE ALPHA-MANNOSIDOSIS REGISTRY: A multi-centre, multi-country, non interventional, prospective cohort, in alpha-mannosidosis patients (SPARKLE)

Study type

• Study type:
  Non-interventional study
• Scope of the study:
  Assessment of risk minimisation measure implementation or effectiveness

  Effectiveness study (incl. comparative)

Non-interventional study

• Non-interventional study design:
  Other
• Non-interventional study design, other:
  observational prospective trial

Population studied

• Age groups:
  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)

  Adults (18 to < 46 years)

  Adults (46 to < 65 years)

  Adults (65 to < 75 years)

  Adults (75 to < 85 years)

  Adults (85 years and over)
• Estimated number of subjects:
  70

Study design details

• Main study objective:
  To assess the long-term effectiveness and safety of treatment with Lamzede under conditions of routine clinical care. Effectiveness: to estimate the Global Treatment Response rate as percentage of patients qualified as responders by aggregately assessing oligosaccharides in serum, 3MSCT, 6MWT, FVC and QoL. Safety: the rate of AEs in the treated patients.
• Data analysis plan:
  Categorical variables will be described by means of absolute and relative frequencies, while continuous variables by means of mean, standard deviation, quartiles, min and max. Analysis will consider data collected at available observational point, according to clinical practice and clinical judgment. In order to summarise data by time point (e.g. one year after baseline, two years after baseline, etc.), the nearest available evaluation/measurement will be considered (acceptable range).