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

Spinal Muscular Atrophy Clinical Trial

— MAP_THE_SMA-01  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05769465
• Other study ID #: 5488
• Secondary ID: GR-2021-12374579
• Status: Recruiting
• Start date: April 1, 2023
• Est. completion date: April 1, 2026

Study information

• Verified date: March 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: Comitato Etico
• Phone: 0630156124
• Email: comitato.etico[@]policlinicogemelli.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 247
• Est. completion date: April 1, 2026
• Est. primary completion date: November 1, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Intervention

Drug:
• disease modifying treatments
Patients will be enrolled if exposed to nusinersen, risdiplam, onasemnogene abeparvovec

Locations

Country	Name	City	State
Italy	Fondazione Policlinico Universitario Agostino Gemelli IRCCS	Roma

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec		30 months
Primary	Identify novel biomarkers and RNA molecular signature profiling		30 months
Primary	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