Observing the natural history of spinal muscular atrophy
Natural History of SMA: Long Term Longitudinal Study and Development of a Registry
This study is trying to understand how spinal muscular atrophy affects patients over time by looking at their experiences and health data from both treated and untreated individuals.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1200 (estimated) |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 5 sites (Genova and 4 other locations) |
| Trial ID | NCT05755451 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and analyze data on the natural history of spinal muscular atrophy (SMA) in a large cohort of patients across five academic centers in Italy. By combining retrospective and prospective data, the study seeks to identify factors influencing disease progression and describe patterns of functional measures, adverse events, and levels of care in both treated and untreated patients. The registry will also document epidemiological data and provide insights into supportive care and hospitalization experiences of SMA patients. Trained clinical evaluators and data managers will ensure the reliability of the data collected.
Who should consider this trial
Good fit: Ideal candidates for this study include all patients diagnosed with spinal muscular atrophy.
Not a fit: Patients currently enrolled in other clinical trials may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of SMA progression and improve patient care strategies.
How similar studies have performed: While observational studies on SMA exist, this comprehensive registry approach is relatively novel and aims to fill gaps in understanding the disease's natural history.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: all patients Exclusion Criteria: if enrolled in clinical trials
Where this trial is running
Genova and 4 other locations
- Istituto Gaslini — Genova, Italy (Recruiting)
- Nemo Sud — Messina, Italy (Recruiting)
- Centro Clinico nemo — Milan, Italy (Recruiting)
- Ospedale Bambino gesu — Rome, Italy (Recruiting)
- Policlinico gemelli — Rome, Italy (Recruiting)
Study contacts
- Principal investigator: Eugenio Mercuri, MD — F Policlinico Gemelli IRCCS
- Study coordinator: Eugenio Mercuri, MD
- Email: eugeniomaria.mercuri@policlinicogemelli.it
- Phone: 06 3015
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.