Natural History of SMA

Muscular Atrophy, Spinal Clinical Trial

— iSMAR  

Official title:

Natural History of SMA: Long Term Longitudinal Study and Development of a Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05755451
• Other study ID #: 1894
• Status: Recruiting
• Start date: June 21, 2018
• Est. completion date: December 30, 2033

Study information

• Verified date: February 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: Eugenio Mercuri, MD
• Phone: 06 3015
• Email: eugeniomaria.mercuri[@]policlinicogemelli.it
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1200
• Est. completion date: December 30, 2033
• Est. primary completion date: December 30, 2033
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

all patients Exclusion Criteria: if enrolled in clinical trials

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal

Locations

Country	Name	City	State
Italy	Istituto Gaslini	Genova
Italy	Nemo Sud	Messina
Italy	Centro Clinico nemo	Milano
Italy	Ospedale Bambino gesu	Rome
Italy	Policlinico gemelli	Rome

Sponsors (5)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS	Istituto Giannina Gaslini, Ospedale Pediatrico Bambin Gesù, University of Messina, University of Milan

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	motor function	functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance	15 years
Secondary	respiratory function	Forced Vital Capacity, need for ventilatory support	15 years
Secondary	nutrition	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	15 years