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MAP THE SMA: a Machine-learning Based Algorithm to Predict THErapeutic Response in Spinal Muscular Atrophy

NCT05769465 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 247

Last updated 2023-09-13

No results posted yet for this study

Summary

Spinal Muscular Atrophy (SMA) is caused by the homozygous loss of the Survival Motor Neuron (SMN) 1 gene, which leads to degeneration of spinal alpha-motor neurons and muscle atrophy. Three treatments have been approved for SMA but the available data show interpatient variability in therapy response and, to date, individual factors such as age or SMN2 copies,cannot fully explain this variance.

The aim of this project is:

* collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec,
* identify novel biomarkers and RNA molecular signature profiling,
* develop a predictive algorithm using artificial intelligence (AI) methodologies based on machine learning (ML), able to integrate clinical outcomes, patients' characteristics, and specific biomarkers.

This effort will help to better stratify the SMA patients and to predict their therapeutic outcome, thus to address patients towards personalized therapies.

Conditions

Interventions

DRUG

disease modifying treatments

Patients will be enrolled if exposed to nusinersen, risdiplam, onasemnogene abeparvovec

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • Giorgia Coratti, PhD · Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-04-01
Primary Completion
2025-11-01
Completion
2026-04-01
FDA Drug
Yes

Countries

  • Italy

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05769465 on ClinicalTrials.gov