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

NCT ID: NCT05769465

Last Updated: 2023-09-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

247 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-04-01

Study Completion Date

2026-04-01

Brief Summary

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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.

Detailed Description

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Conditions

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Spinal Muscular Atrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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Patients treated with nusinersen

disease modifying treatments

Intervention Type DRUG

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

Patients treated with risdiplam

disease modifying treatments

Intervention Type DRUG

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

Patients treated with onasemnogene abeparvovec

disease modifying treatments

Intervention Type DRUG

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

Patients naive from disease modifying treatments

No interventions assigned to this group

Interventions

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disease modifying treatments

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

Intervention Type DRUG

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Giorgia Coratti, PhD

Role: PRINCIPAL_INVESTIGATOR

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Locations

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Roma, , Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Comitato Etico

Role: CONTACT

0630156124

Facility Contacts

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Giorgia Coratti, PhD

Role: primary

Other Identifiers

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GR-2021-12374579

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

5488

Identifier Type: -

Identifier Source: org_study_id

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