Natural History of SMA
ConditionMuscular Atrophy, Spinal
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
None
Trial population
all pèatients with mutations in the SMN1 gene
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
motor function
functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance
Time frame
15 yearsSecondary outcomes
1
respiratory function
Forced Vital Capacity, need for ventilatory support
Time frame
15 years2
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
Time frame
15 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Lead sponsor
University of Milan
Collaborator
Istituto Giannina Gaslini
Collaborator
Ospedale Pediatrico Bambin Gesù
Collaborator
University of Messina
Collaborator
Source ClinicalTrials.gov