Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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 ;


Study Design


Related Conditions & MeSH terms


NCT number NCT05755451
Study type Observational [Patient Registry]
Source Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact Eugenio Mercuri, MD
Phone 06 3015
Email eugeniomaria.mercuri@policlinicogemelli.it
Status Recruiting
Phase
Start date June 21, 2018
Completion date December 30, 2033

See also
  Status Clinical Trial Phase
Completed NCT00533221 - Pilot Study of Growth Hormon to Treat SMA Typ II and III Phase 2
Completed NCT02908685 - A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants Phase 2
Recruiting NCT05575011 - A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115 Phase 1
Completed NCT05073133 - Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) (OFELIA) Phase 4
Terminated NCT02240355 - A Study of RO6885247 in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH) Phase 1
Recruiting NCT05042921 - Pediatric Spinal Muscular Atrophy (SMA) China Registry
Completed NCT04419233 - Non-Interventional, Postmarketing Surveillance Study of Nusinersen Sodium Injection
Recruiting NCT05861986 - A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy Phase 4
Completed NCT00466349 - International SMA Patient Registry
Completed NCT03920865 - A Study to Investigate the Effect of Hepatic Impairment on the Pharmacokinetics and Safety and Tolerability of a Single Oral Dose of Risdiplam Compared to Matched Healthy Participants With Normal Hepatic Function Phase 1
Recruiting NCT05481164 - Newborn Screening for Spinal Muscular Atrophy
Completed NCT04089566 - Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Phase 3
Recruiting NCT05861999 - A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy Phase 4
Active, not recruiting NCT01233817 - Progressive Strength Training in Spinal Muscular Atrophy N/A
Recruiting NCT04317794 - Observational, Postmarketing Surveillance Study of Spinraza Injection (Nusinersen Sodium)
Active, not recruiting NCT05618379 - Adult Spinal Muscular Atrophy (SMA) China Registry
Active, not recruiting NCT04488133 - A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec Phase 4
Completed NCT03781479 - Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients Phase 2
Completed NCT00568802 - A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Phase 1/Phase 2
Completed NCT00568698 - A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Phase 1/Phase 2