Understanding the long-term effects of treatments on Spinal Muscular Atrophy patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

Inclusion Criteria:

all patients with mutationsin the SMAN1 gene

Exclusion Criteria:

unable to proviude consent

Where it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Pregnancy-time treatment of fetal SMA: a registry of mother-child outcomes

  This registry collects information on pregnancies where a fetus diagnosed with spinal muscular atrophy was treated with a disease‑modifying therapy in the womb to see how the pregnancy and baby fare after birth.

  Recruiting St. Jude Children's Research Hospital · Memphis, Tennessee · NCT07805278

• Intrathecal Zolgensma in spinal muscular atrophy patients in Japan

  This study tests the safety and real‑world effectiveness of intrathecal onasemnogene abeparvovec in SMA patients in Japan.

  Recruiting at 4 sites Novartis · Toyoake, Aichi-ken and 3 other locations · NCT07767890

• Spinal muscular atrophy patients get a single intrathecal gene therapy dose to see how it works in real-world U.S. settings

  This study tests whether a one-time intrathecal dose of ITVISMA® (onasemnogene abeparvovec-brve) is safe and effective for SMA patients in real-world U.S. clinical practice.

  Recruiting at 6 sites Phase 4 Novartis · Little Rock, Arkansas and 5 other locations · NCT07448610

• Salanersen (BIIB115) for improving movement in people 15–60 with spinal muscular atrophy who are treatment‑naïve or previously on risdiplam

  This trial tests whether salanersen helps movement and is safe for people aged 15 to 60 with spinal muscular atrophy who are either new to treatment or have taken risdiplam.

  Recruiting at 3 sites Phase 3 Biogen · Palo Alto, California and 2 other locations · NCT07444476

• CuidAME: Spain's longitudinal registry for spinal muscular atrophy

  This project collects long-term clinical and treatment data from children and adults with genetically confirmed 5q spinal muscular atrophy in Spain to track outcomes over time.

  Recruiting Fundació Sant Joan de Déu · Esplugues de Llobregat · NCT07231549

• Apitegromab for infants under 2 with spinal muscular atrophy

  This trial will test whether adding apitegromab to approved SMA therapy helps infants under 2 with 5q SMA reach better motor milestones.

  Recruiting at 23 sites Phase 2 Scholar Rock, Inc. · Phoenix, Arizona and 22 other locations · NCT07047144

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.