An observational study in Spinal Muscular Atrophy, sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Status unknown at 2 sites in Italy. Per ClinicalTrials.gov, last updated 2023-03-22.
Sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Observational
Major breakthroughs in the treatment for Spinal muscular atrophy (SMA) have been recently achieved with various therapeutic approaches that increase full-length SMN protein levels. The variability observed following the advent of commercial availability of Nusinersen for all types of SMA has highlighted the need to identify tools that may allow to predict possible therapeutic responses. The aim of this project is to establish whether an integrated approach using clinical, imaging (muscle MRI) and circulating biomarkers, can provide the possibility to develop a predictive model of therapeutic response to novel therapies for SMA patients. More specifically we wish to establish the correlation between clinical response, different biomarkers indicative of central nervous system efficacy (e.g. determination of neurofilaments levels), and markers that provide evidence of the skeletal muscle response (e.g. serum myostatin and muscle imaging) in different types of SMA
Hyphotesis and Significance:
The individual variability in clinical response to treatment reported in the first Nusinersen studies has been confirmed by post approval real-world data. While some children acquire unexpected motor abilities, others have an apparently more limited clinical response. Age at disease onset and severity are reported to play a role, but do not account for the entire spectrum of clinical responses observed. There is a strong need to identify clinical and laboratory biomarkers to better understand the variables that determine the response to treatment in individuals, especially under the prospect of having further therapeutic options approved in the near future.
Working hypothesis: The hypothesis is that circulating, including neurofilaments and myostatin pathway, and imaging biomarkers may provide additional information to clinical longitudinal data and that an integrated approach may provide a better possibility to develop a predictive model of therapeutic response to novel therapies for SMA patients.
The aim is to to set up a platform of biomarkers, including circulating NfL, myostatin pathway (GDF8, FOLLISTATIN, GDF11 and ACTIVIN A) and creatinine, to establish how they relate to clinical findings and to better understand if these variables may determine clinical response to the treatment in SMA.
In patients older than 5 years, muscle MRI at baseline will also be used to explore if the pattern and severity of muscle involvement can better define the phenotype and predict therapeutic response
Specific Aim 2:
to identify trajectories of clinical progression in patients treated with Nusinersen, using our prospective data in combination with available data in other patients recently treated with Nusinersen
Specific Aim 3:
The overarching aim of this project is to explore the possibility to develop an integrated predictive model of therapeutic response to novel therapies for SMA patients
294 studies on the registry are indexed under Muscular Atrophy, Spinal; 77 are open to participants now.
This study's planned enrollment of 90 is below the median of 108 across 119 observational studies indexed under Muscular Atrophy, Spinal.
Browse Muscular Atrophy, Spinal studies →Fondazione Policlinico Universitario Agostino Gemelli IRCCS is the lead sponsor of 948 studies on the registry; 537 are open to participants now.
Counted across the registry records on this site, refreshed daily.
all pèatients withj a genetically confirmed diagnosis of 5Q spinal muscular atrophy who receive a treatment as part of standards of care
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
* All patients with SMA undergoing one of the treatments provided as standards of care
Exclusion Criteria:
neurofilament levels
serum and CSF neurofilament levels to be determined n relation to age and severity
Time frame: 3 years
miostatin levels
Serum levels to be determined in relation to age and severity
Time frame: 3 years
Hammesrmith Functional motor Scale expanded
motor functional scale, minimum score 0, maximum score 74 indicating best performance
Time frame: 3 years
Plan to share: No — aggregate data only in line with italian regulation and consnet
No publications or documents are linked to this record.
Started Sep 2021 (actual). Primary completion is estimated for Aug 2024, 35 months after the start.
Of 60 observational studies under Muscular Atrophy, Spinal, half reached primary completion within 88 months of starting (the median), counting those still running; a quarter within 35 and three quarters within 114. This study's planned 35 months is below that.
How these figures are worked out, and which studies are left out of them.
This study is status unknown, as verified in Feb 2023. You cannot join it, but the record below documents what was studied.
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS →