This is an investigator initiated observational study with the aim to record several aspects
      of function, care and adverse events in a large cohort of SMA patients followed
      longitudinally by using a structured academic disease registry.

Natural History of SMA

Muscular Atrophy, Spinal

This is an observational multicenter retrospective and prospective study involving high
      quality data collected in 5 academic centers in Italy, the registry aims to

        -  better understand the natural history of the disease in untreated patients identifying
           factors that can influence disease progression by combining retrospective and
           prospective data.

        -  Describe the patterns of disease progression (in terms of functional measure, adverse
           events, levels of care, and hospitalization) in treated and untreated patients

        -  Identify all the patients treated with the available therapies in Italy, providing first
           line details on epidemiological data in a wider network including all centers recognized
           as centers for spinal muscular atrophy (SMA) in each region.

      As part of the activity clinical evaluators, data manager and sub-investigators are also
      trained and use common manuals of operation to ensure reliability across the participating
      centers. The registry provides accurate and reliable information on natural history including
      results from currently used functional measures. The registry also includes information on
      supportive care, hospitalization and adverse events.

      Details of the electronic clinical file record including data assembly and the platform used
      are available as part of a peer reviewed paper

Natural History of SMA: Long Term Longitudinal Study and Development of a Registry

functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance

Forced Vital Capacity, need for ventilatory support

need for nutritional support using Oral and Swallowing Abilities Tool (OrSAT) with a minimum score of 0 and a maximum score of 12 indicating best performance

Natural History of SMA

About this trial

Study ID

Status

Type

Placebo

Accepting

Not accepting

Trial Timing

What is this trial about?

What are the participation requirements?

Locations

Location

Status