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

Status: Recruiting
Location: See location...
Intervention Type: Drug
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• confirmed genetic diagnosis of SMA (5q)

• clinical phenotype of type I or II or III;

• able to provide (patient/caregiver) written informed consent

Locations
Other Locations
Italy
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
RECRUITING
Roma
Contact Information
Primary
Comitato Etico
comitato.etico@policlinicogemelli.it
0630156124
Time Frame
Start Date: 2023-04-01
Estimated Completion Date: 2026-04-01
Participants
Target number of participants: 247
Treatments
Patients treated with nusinersen
Patients treated with risdiplam
Patients treated with onasemnogene abeparvovec
Patients naive from disease modifying treatments
Sponsors
Leads: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

This content was sourced from clinicaltrials.gov