Trials Sponsors Conditions Drugs Pricing

Conditions

Spinal Muscular Atrophy (SMA)

Keywords

SMN1 geneSpinal muscular atrophy (SMA)novel biomarkers

Outcome Measures

Primary Outcomes (3)

Identification of biomarkers that distinguish patients with SMA from healthy controls and differentiate between disease phenotypes (p < 0.05).
through study completion, an average of 2 years
Functional validation of biomarkers in SMA organoids and their association with treatment response
through study completion, an average of 2 years
Identification of biomarkers predictive of clinical disease progression in newborns with SMA (accuracy >80%)
through study completion, an average of 2 years

Secondary Outcomes (3)

Integrated molecular signatures predictive of treatment response (accuracy >80%).
through study completion, an average of 2 years
Identification of ≥3 biomarkers conserved in C. elegans models and associated with phenotypic effects.
through study completion, an average of 2 years
Development of a prognostic algorithm based on biomarker levels at neonatal diagnosis (sensitivity/specificity >80%).
through study completion, an average of 2 years

Study Arms (3)

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.

Eligibility Criteria

Sexall

Healthy VolunteersYes

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-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.

You may qualify if:

Genetically confirmed diagnosis of SMA, with homozygous deletion or mutation of the SMN1 gene, for symptomatic patients.

Sponsors & Collaborators

Piano Nazionale di Ripresa e Resilienza (PNRR)
Type not reportedcollaborator
Istituto Giannina Gaslini
Otherlead

Study Sites (3)

IRCCS Istituto Giannina Gaslini

Genova, Italy

RECRUITING

Claudio BrunoCONTACT+3901056362756 claudiobruno@gaslini.org

Fondazione Ca' Granda Ospedale Maggiore Policlinico

Milan, Italy

RECRUITING

Stefania CortiCONTACT+3902 5503.6504 stefania.corti@unimi.it

MeSH Terms

Conditions

Muscular Atrophy, SpinalSpinal Muscular Atrophy, Type IV

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesMotor Neuron DiseaseNeurodegenerative DiseasesNeuromuscular Diseases

Central Study Contacts

Claudio Bruno, MD

CONTACT

+3901056362756 claudiobruno@gaslini.org

Study Design

Study Type: observational
Observational Model: CASE CONTROL
Time Perspective: OTHER
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

October 9, 2026

First Posted

October 20, 2026

Study Start

February 5, 2025

Actual (reported)

Primary Completion

December 2026

Estimated

Planned date reported by the registry; this milestone is not confirmed as achieved.

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

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (3)

Secondary Outcomes (3)

Study Arms (3)

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.

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (3)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (3)

Secondary Outcomes (3)

Study Arms (3)

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.

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (3)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations