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

NCT05769465 | Recruiting FDA Drug

• 2 other identifiers: 5488GR-2021-12374579
• Study Type: observational
• Target: 247
• Locations: 1 country
• Sites: 1

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.

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (3)

• 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

Study Arms (4)

Patients treated with nusinersen

Drug: disease modifying treatments

Patients treated with risdiplam

Drug: disease modifying treatments

Patients treated with onasemnogene abeparvovec

Drug: disease modifying treatments

Patients naive from disease modifying treatments

Interventions

disease modifying treatments DRUG

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

Patients treated with nusinersen; Patients treated with onasemnogene abeparvovec; Patients treated with risdiplam

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Roma, 00168, Italy

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Giorgia Coratti, PhD

  Fondazione Policlinico Universitario Agostino Gemelli IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Comitato Etico

CONTACT

0630156124; comitato.etico@policlinicogemelli.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 3, 2023
• First Posted: March 15, 2023
• Study Start: April 1, 2023
• Primary Completion: November 1, 2025
• Study Completion: April 1, 2026
• Last Updated: September 13, 2023

Record last verified: 2023-03

Locations

IT (1)