Understanding the long-term effects of treatments on Spinal Muscular Atrophy patients
SMA Natural History Study Evaluating Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments
This study looks at how different treatments affect people with Spinal Muscular Atrophy over time, comparing those who are treated and those who aren't to understand their quality of life and disease progression.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 5 sites (Genova and 4 other locations) |
| Trial ID | NCT05768048 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the natural history of Spinal Muscular Atrophy (SMA) by analyzing both treated and untreated patients. It aims to collect data on functional aspects, quality of life, and concomitant illnesses over time. The study includes patients from an Italian registry and will utilize both retrospective and prospective data collection methods. Patients will be assessed regularly, allowing for a comprehensive understanding of disease progression and treatment impact.
Who should consider this trial
Good fit: Ideal candidates for this study are patients diagnosed with Spinal Muscular Atrophy 5q, regardless of their treatment status, age, or gender.
Not a fit: Patients who are unable to provide consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the long-term effects of treatments on SMA, potentially guiding future therapeutic strategies.
How similar studies have performed: While this study builds on existing knowledge of SMA, it incorporates new data from commercially available therapies, making it a novel approach in understanding the disease's natural history.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: all patients with mutationsin the SMAN1 gene Exclusion Criteria: unable to proviude consent
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
- Study coordinator: Eugenio Mercuri, MD
- Email: eugeniomaria.mercuri@policlinicogemelli.it
- Phone: 063015
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.