Spinal Muscular Atrophy (SMA)MOSAiC-SMANCT07883655
Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA
An observational study of Spinal Muscular Atrophy (SMA), run by Istituto Giannina Gaslini at 3 sites in Italy.
Trial summary
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy. Despite recent advances in therapeutic options, the clinical management of SMA remains challenging due to the heterogeneity of disease… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- How many people
- 200 participants
- Where
- 3 sitesItaly
- Study dates
- 5 Feb 2025to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The study will include three groups: 1. Patients with a genetically confirmed diagnosis of SMA types 1, 2, or 3. 2. Newborns diagnosed with SMA through newborn screening, with genetic confirmation. 3. Healthy age-matched controls with no personal or family history of neuromuscular diseases.
Who may be able to join
- Genetically confirmed diagnosis of SMA, with homozygous deletion or mutation of the SMN1 gene, for symptomatic patients.
- Diagnosis of SMA through newborn screening, with genetic confirmation, for newborns.
- Ability of parents/legal guardians to provide informed consent for minor patients.
- Willingness to undergo the study procedures, including blood sampling and collection of biological specimens.
Who cannot join
- Presence of other neuromuscular or neurological diseases that could influence the clinical phenotype and biomarker profile.
- Participation in other clinical trials involving investigational medicinal products for SMA within the 6 months prior to enrolment.
- Presence of medical or psychological conditions that could compromise patient compliance or study safety.
- Refusal to participate in the study or to provide informed consent.
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy3 sites, 3 recruiting
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Claudio Bruno, +3901056362756, claudiobruno@gaslini.org
- Recruiting
Fondazione Ca' Granda Ospedale Maggiore Policlinico
Milan
Stefania Corti, +3902 5503.6504, stefania.corti@unimi.it
- Recruiting
Istituto di Bioscienze e Biorisorse IBBR
Naples
Elia Di Schiavi, +390816132365, elia.dischiavi@ibbr.cnr.it
About this study
Official title: Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA - Approcci Avanzati Multi-omici e Sistemici Per Identificare Nuovi Biomarcatori Per la SMA
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy. Despite recent advances in therapeutic options, the clinical management of SMA remains challenging due to the heterogeneity of disease progression and variability in treatment response.
This study aims to identify and validate novel biomarkers to improve the diagnosis, prognosis, and therapeutic monitoring of patients with SMA through a multi-omics and translational research approach.
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- SMN1 gene, Spinal muscular atrophy (SMA), novel biomarkers
- Medical subject headings
- Muscular Atrophy, Spinal, Spinal Muscular Atrophy, Type IV
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with a genetic diagnosis of SMA types 1, 2, or 3 | Not described | |
| Newborns diagnosed with SMA through screening and with genetic confirmation. | Not described | |
| Healthy age-matched controls with no personal or family history of neuromuscular diseases. | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of biomarkers that distinguish patients with SMA from healthy controls and differentiate between disease phenotypes (p < 0.05).
Measured: through study completion, an average of 2 years
Functional validation of biomarkers in SMA organoids and their association with treatment response
Measured: through study completion, an average of 2 years
Identification of biomarkers predictive of clinical disease progression in newborns with SMA (accuracy >80%)
Measured: through study completion, an average of 2 years
Secondary outcomes (3)
Integrated molecular signatures predictive of treatment response (accuracy >80%).
Measured: through study completion, an average of 2 years
Identification of ≥3 biomarkers conserved in C. elegans models and associated with phenotypic effects.
Measured: through study completion, an average of 2 years
Development of a prognostic algorithm based on biomarker levels at neonatal diagnosis (sensitivity/specificity >80%).
Measured: through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Oct 2026
- Study start5 Feb 2025
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- 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
- Case-control
- Time perspective
- Other
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Collaborators
- Piano Nazionale di Ripresa e Resilienza (PNRR)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07883655
- Sponsor's protocol ID
- MOSAiC-SMA (13951)
- Acronym
- MOSAiC-SMA
- Status last verified
- Oct 2026
- First submitted
- 9 Oct 2026
- Last updated
- 20 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 20 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA - Approcci Avanzati Multi-omici e Sistemici Per Identificare Nuovi Biomarcatori Per la SMA
- ClinicalTrials.gov ID
- NCT07883655
- Acronym / sponsor ID
- MOSAiC-SMA / MOSAiC-SMA (13951)
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- SMN1 gene, Spinal muscular atrophy (SMA), novel biomarkers
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Istituto Giannina GasliniUniversity, hospital or other
- Collaborators
- Piano Nazionale di Ripresa e Resilienza (PNRR)
- Study start
- 5 Feb 2025 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 20 Oct 2026 (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.
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy. Despite recent advances in therapeutic options, the clinical management of SMA remains challenging due to the heterogeneity of disease progression and variability in treatment response.
This study aims to identify and validate novel biomarkers to improve the diagnosis, prognosis, and therapeutic monitoring of patients with SMA through a multi-omics and translational research approach.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patients with a genetic diagnosis of SMA types 1, 2, or 3 | – | – |
| Newborns diagnosed with SMA through screening and with genetic confirmation. | – | – |
| Healthy age-matched controls with no personal or family history of neuromuscular diseases. | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study will include three groups: 1. Patients with a genetically confirmed diagnosis of SMA types 1, 2, or 3. 2. Newborns diagnosed with SMA through newborn screening, with genetic confirmation. 3. Healthy age-matched controls with no personal or family history of neuromuscular diseases.
Key inclusion criteria (4 listed)
- Genetically confirmed diagnosis of SMA, with homozygous deletion or mutation of the SMN1 gene, for symptomatic patients.
- Diagnosis of SMA through newborn screening, with genetic confirmation, for newborns.
- Ability of parents/legal guardians to provide informed consent for minor patients.
- Willingness to undergo the study procedures, including blood sampling and collection of biological specimens.
Key exclusion criteria (4 listed)
- Presence of other neuromuscular or neurological diseases that could influence the clinical phenotype and biomarker profile.
- Participation in other clinical trials involving investigational medicinal products for SMA within the 6 months prior to enrolment.
- Presence of medical or psychological conditions that could compromise patient compliance or study safety.
- Refusal to participate in the study or to provide informed 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
Identification of biomarkers that distinguish patients with SMA from healthy controls and differentiate between disease phenotypes (p < 0.05).
Time frame: through study completion, an average of 2 years
Functional validation of biomarkers in SMA organoids and their association with treatment response
Time frame: through study completion, an average of 2 years
Identification of biomarkers predictive of clinical disease progression in newborns with SMA (accuracy >80%)
Time frame: through study completion, an average of 2 years
3 secondary outcomes
Integrated molecular signatures predictive of treatment response (accuracy >80%).
Time frame: through study completion, an average of 2 years
Identification of ≥3 biomarkers conserved in C. elegans models and associated with phenotypic effects.
Time frame: through study completion, an average of 2 years
Development of a prognostic algorithm based on biomarker levels at neonatal diagnosis (sensitivity/specificity >80%).
Time frame: through study completion, an average of 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Oct 2026.
- Individual participant dataSharing planned: Undecided
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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.
3 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 (SMA), run by Istituto Giannina Gaslini at 3 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 4 inclusion and 4 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: looking for participants now, as of the sponsor's last update on 20 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Claudio Bruno, MD (+3901056362756, claudiobruno@gaslini.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of biomarkers that distinguish patients with SMA from healthy controls and differentiate between disease phenotypes (p < 0.05). (time frame: through study completion, an average of 2 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 20 Oct 2026.