Natural History of SMA

Recruiting

• Conditions: Muscular Atrophy, Spinal

• Registration Number: NCT05755451
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Brief 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.

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

Study Timeline

• Study Start: 2018-06-21
• Status Verified: 2023-02
• Study First Submitted: 2023-02-08
• Study First Submitted QC: 2023-03-02
• Last Update Submitted: 2023-03-02
• Study First Posted: 2023-03-06
• Last Update Posted: 2023-03-06
• Primary Completion: 2033-12-30
• Study Completion: 2033-12-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1200

Inclusion Criteria

all patients

Exclusion Criteria

if enrolled in clinical trials

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
motor function	15 years	functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance

Secondary Outcome Measures

Name	Time	Method
respiratory function	15 years	Forced Vital Capacity, need for ventilatory support
nutrition	15 years	need for nutritional support using Oral and Swallowing Abilities Tool (OrSAT) with a minimum score of 0 and a maximum score of 12 indicating best performance

Trial Locations

Locations (5)

Istituto Gaslini; 🇮🇹 Genova, Italy

Nemo Sud; 🇮🇹 Messina, Italy

Ospedale Bambino gesu; 🇮🇹 Rome, Italy

Policlinico gemelli; 🇮🇹 Rome, Italy

Centro Clinico nemo; 🇮🇹 Milano, Italy