Natural History of SMA
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Muscular Atrophy, Spinal. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Natural History of SMA: Long Term Longitudinal Study and Development of a Registry
Overview
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.
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
* 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
Primary outcome measures
- motor function [Time frame: 15 years]
Secondary outcome measures (2)
- respiratory function [Time frame: 15 years]
- nutrition [Time frame: 15 years]
Eligibility criteria
Inclusion criteria
all patients
Exclusion criteria
if enrolled in clinical trials
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 5 centers
- Istituto Gaslini — Genova
- Nemo Sud — Messina
- Centro Clinico nemo — Milan
- Ospedale Bambino gesu — Rome
- Policlinico gemelli — Rome
Identifiers
NCT: NCT05755451 · 1894