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

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05769465

Collaborator

(none)

247

Enrollment

Anticipated Duration (Months)

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Spinal Muscular Atrophy	Drug: disease modifying treatments

Study Design

Study Type:

Observational

Anticipated Enrollment :

247 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

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

Anticipated Study Start Date :

Apr 1, 2023

Anticipated Primary Completion Date :

Nov 1, 2025

Anticipated Study Completion Date :

Apr 1, 2026

Arms and Interventions

Arm	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

Outcome Measures

Primary Outcome Measures

Collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec [30 months]
Identify novel biomarkers and RNA molecular signature profiling [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 [24 months]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

ClinicalTrials.gov Identifier:

NCT05769465

Other Study ID Numbers:

5488
GR-2021-12374579

First Posted:

Mar 15, 2023

Last Update Posted:

Mar 16, 2023

Last Verified:

Mar 1, 2023

Studies a U.S. FDA-regulated Drug Product:

Yes

Studies a U.S. FDA-regulated Device Product:

Product Manufactured in and Exported from the U.S.:

Additional relevant MeSH terms:

Muscular Atrophy

Muscular Atrophy, Spinal

Atrophy

Study Results

No Results Posted as of Mar 16, 2023