iSMAR: Natural History of SMA
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
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Detailed Description
This is an observational multicenter retrospective and prospective study involving high quality data collected in 5 academic centers in Italy, the registry aims to
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better understand the natural history of the disease in untreated patients identifying factors that can influence disease progression by combining retrospective and prospective data.
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Describe the patterns of disease progression (in terms of functional measure, adverse events, levels of care, and hospitalization) in treated and untreated patients
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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
Study Design
Outcome Measures
Primary Outcome Measures
- motor function [15 years]
functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance
Secondary Outcome Measures
- respiratory function [15 years]
Forced Vital Capacity, need for ventilatory support
- nutrition [15 years]
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
Eligibility Criteria
Criteria
Inclusion Criteria:
all patients
Exclusion Criteria:
if enrolled in clinical trials
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Istituto Gaslini | Genova | Italy | ||
| 2 | Nemo Sud | Messina | Italy | ||
| 3 | Centro Clinico nemo | Milano | Italy | ||
| 4 | Ospedale Bambino gesu | Rome | Italy | ||
| 5 | Policlinico gemelli | Rome | Italy |
Sponsors and Collaborators
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- University of Milan
- Istituto Giannina Gaslini
- Ospedale Pediatrico Bambin Gesù
- University of Messina
Investigators
- Principal Investigator: Eugenio Mercuri, MD, F Policlinico Gemelli IRCCS
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 1894