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RecruitingNCT07883655MOSAiC-SMAUpdated Oct 20, 2026

Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA

An observational study in Spinal Muscular Atrophy (SMA), sponsored by Istituto Giannina Gaslini. Recruiting at 3 sites in Italy. Per ClinicalTrials.gov, last updated 2026-10-20.

Sponsored by Istituto Giannina Gaslini · Observational

From the registry’s dates

  • Started Feb 2025; still recruiting 1 year 8 months later.
Updated Oct 20, 2026Newly registeredGo to Updates ↓
Study type
Observational
Model
Case-control
Time perspective
Other
Enrollment
200
Sex
All
01

Study 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 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.

02

Conditions studied

  • Spinal Muscular Atrophy (SMA)

Keywords

  • SMN1 gene
  • Spinal muscular atrophy (SMA)
  • novel biomarkers
03

In context

Muscular Atrophy, Spinal

294 studies on the registry are indexed under Muscular Atrophy, Spinal; 77 are open to participants now.

This study's planned enrollment of 200 is above the median of 108 across 119 observational studies indexed under Muscular Atrophy, Spinal.

Browse Muscular Atrophy, Spinal studies →

Lead sponsor

Istituto Giannina Gaslini is the lead sponsor of 50 studies on the registry; 33 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

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.

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.

Inclusion criteria

  • 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.

Exclusion criteria

Exclusion Criteria:

  • 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.
05

Study design

Observational model
Case-control
Time perspective
Other
Enrollment
200 participants (estimated)
Patient registry
No

Groups and cohorts

  • 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.
06

What researchers measure

Primary outcomes

  1. 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

  2. Functional validation of biomarkers in SMA organoids and their association with treatment response

    Time frame: through study completion, an average of 2 years

  3. Identification of biomarkers predictive of clinical disease progression in newborns with SMA (accuracy >80%)

    Time frame: through study completion, an average of 2 years

Secondary outcomes

  1. Integrated molecular signatures predictive of treatment response (accuracy >80%).

    Time frame: through study completion, an average of 2 years

  2. Identification of ≥3 biomarkers conserved in C. elegans models and associated with phenotypic effects.

    Time frame: through study completion, an average of 2 years

  3. 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

07

Study locations

3 of 3 sites recruiting
  • IRCCS Istituto Giannina Gaslini
    Genova, Italy
    Recruiting
  • Fondazione Ca' Granda Ospedale Maggiore Policlinico
    Milan, Italy
    Recruiting
  • Istituto di Bioscienze e Biorisorse IBBR
    Naples, Italy
    Recruiting
08

References and documents

Individual participant data

Plan to share: Undecided

No publications or documents are linked to this record.

09

Timeline

1 registry update since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Feb 2025 (actual). Primary completion is estimated for Dec 2026, 22 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 22 months is below that.

How these figures are worked out, and which studies are left out of them.

Registered
Oct 9, 2026
First posted
Oct 20, 2026
StartActual
Feb 5, 2025
Primary completionEst.
Dec 2026
CompletionEst.
Dec 2026
Last update
Oct 20, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
Registered
First appeared on the registry. No changes since
Oct 20, 2026
Show all 1 update
  1. Oct 20, 2026
    First appeared on the registry

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT07883655
Lead sponsor
Istituto Giannina Gaslini
Collaborators
Piano Nazionale di Ripresa e Resilienza (PNRR)
Responsible party
Sponsor
First posted
Oct 20, 2026
Start date
Feb 5, 2025
Primary completion
Dec 2026 (estimated)
Completion
Dec 2026 (estimated)
Last update
Oct 20, 2026

Study contacts

Claudio Bruno, MD
Contact
claudiobruno@gaslini.org
+3901056362756

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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