Spinal Muscular AtrophyNCT05779956
Personalized Medicine for SMA: a Translational Project
An observational study of Spinal Muscular Atrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 2 sites in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 90 participants
- Where
- 2 sitesItaly
- Study dates
- 1 Sep 2021to 31 Aug 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: all pèatients withj a genetically confirmed diagnosis of 5Q spinal muscular atrophy who receive a treatment as part of standards of care
Who may be able to join
- All patients with SMA undergoing one of the treatments provided as standards of care
Who cannot join
- untreated patients
- patients/crarers unwilling to sign consent
Trial locations and contacts
2 sites in 1 country.
Italy2 sites, 2 recruiting
- Recruiting
Ospedale Bambino gesu
Rome
Adele D'Amico
- Recruiting
Policlinico gemelli
Rome
Eugenio Mercuri, 063015 ext. 5340, eugeniomaria.mercuri@policlinicogemelli.it
About this study
Official title: Personalized Medicine for Spinal Muscular Atrophy: a Translational Project to Achieve Patient Specific Therapeutic Guidance.
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
Read the detailed description
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
- Conditions
- Spinal Muscular Atrophy
- Keywords
- biomarkers,, spional muscular atrophy;, outcome
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
neurofilament levels
serum and CSF neurofilament levels to be determined n relation to age and severity
Measured: 3 years
miostatin levels
Serum levels to be determined in relation to age and severity
Measured: 3 years
Hammesrmith Functional motor Scale expanded
motor functional scale, minimum score 0, maximum score 74 indicating best performance
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2023
- Study start1 Sep 2021
- Primary completion31 Aug 2024 (estimated)
- Study completion31 Aug 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- University of Milan, Ospedale Pediatrico Bambino Gesu
- Responsible party
- Sponsor
- Investigators
- Eugenio Mercuri, MD, Principal investigator, F Policlinico Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05779956
- Sponsor's protocol ID
- 3730
- Status last verified
- Feb 2023
- First submitted
- 27 Feb 2023
- Last updated
- 22 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: aggregate data only in line with italian regulation and consnet
Study at a glance
From the registry record, last updated by the sponsor on 22 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Personalized Medicine for Spinal Muscular Atrophy: a Translational Project to Achieve Patient Specific Therapeutic Guidance.
- ClinicalTrials.gov ID
- NCT05779956
- Acronym / sponsor ID
- 3730
- Conditions
- Spinal Muscular Atrophy
- Keywords
- biomarkers,, spional muscular atrophy;, outcome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Collaborators
- University of Milan, Ospedale Pediatrico Bambino Gesu
- Study start
- 1 Sep 2021 (actual)
- Primary completion
- 31 Aug 2024 (estimated)
- Study completion
- 31 Aug 2024 (estimated)
- First posted
- 22 Mar 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- all pèatients withj a genetically confirmed diagnosis of 5Q spinal muscular atrophy who receive a treatment as part of standards of care
Key inclusion criteria (1 listed)
- All patients with SMA undergoing one of the treatments provided as standards of care
Key exclusion criteria (2 listed)
- untreated patients
- patients/crarers unwilling to sign consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
neurofilament levels
Time frame: 3 years
serum and CSF neurofilament levels to be determined n relation to age and severity
miostatin levels
Time frame: 3 years
Serum levels to be determined in relation to age and severity
Hammesrmith Functional motor Scale expanded
Time frame: 3 years
motor functional scale, minimum score 0, maximum score 74 indicating best performance
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Mar 2023.
- Individual participant dataSharing planned: No. aggregate data only in line with italian regulation and consnet
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Eugenio Mercuri, MD principal investigator
F Policlinico Gemelli IRCCS
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 2 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 22 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact eugenio Mercuri, MD (063015 ext. 5340, eugeniomaria.mercuri@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
neurofilament levels (time frame: 3 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Mar 2023.