MAP THE SMA: a Machine-learning Based Algorithm to Predict THErapeutic Response in Spinal Muscular Atrophy (MAP_THE_SMA-01)

September 11, 2023 updated by: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

247

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Roma, Italy, 00168
        • Recruiting
        • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients cared for at Policlinico Gemelli with confirmed genetic diagnosis of SMA (5q) type I or II or III; written informed consent obtained from the participants or their families.

Description

Inclusion Criteria:

  • confirmed genetic diagnosis of SMA (5q)
  • clinical phenotype of type I or II or III;
  • able to provide (patient/caregiver) written informed consent

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients treated with nusinersen
Drug: disease modifying treatments
Patients will be enrolled if exposed to nusinersen, risdiplam, onasemnogene abeparvovec
Patients treated with risdiplam
Drug: disease modifying treatments
Patients will be enrolled if exposed to nusinersen, risdiplam, onasemnogene abeparvovec
Patients treated with onasemnogene abeparvovec
Drug: disease modifying treatments
Patients will be enrolled if exposed to nusinersen, risdiplam, onasemnogene abeparvovec
Patients naive from disease modifying treatments

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec
Time Frame: 30 months
30 months
Identify novel biomarkers and RNA molecular signature profiling
Time Frame: 30 months
30 months
Develop a predictive algorithm using artificial intelligence (AI) methodologies based on machine learning (ML), able to integrate clinical outcomes, patients' characteristics, and specific biomarkers
Time Frame: 24 months
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Investigators

  • Principal Investigator: Giorgia Coratti, PhD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 1, 2023

Primary Completion (Estimated)

November 1, 2025

Study Completion (Estimated)

April 1, 2026

Study Registration Dates

First Submitted

March 3, 2023

First Submitted That Met QC Criteria

March 3, 2023

First Posted (Actual)

March 15, 2023

Study Record Updates

Last Update Posted (Actual)

September 13, 2023

Last Update Submitted That Met QC Criteria

September 11, 2023

Last Verified

March 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 5488
  • GR-2021-12374579 (Other Grant/Funding Number: Italian Health Ministry)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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