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

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ClinicalTrials.gov Identifier: NCT05769465
Recruitment Status : Recruiting
First Posted : March 15, 2023
Last Update Posted : September 13, 2023
Sponsor:
Information provided by (Responsible Party):
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Study Description
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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
Spinal Muscular Atrophy Drug: disease modifying treatments

Study Design
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Study Type : Observational
Estimated 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
Actual Study Start Date : April 1, 2023
Estimated Primary Completion Date : November 1, 2025
Estimated Study Completion Date : April 1, 2026

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort 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
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Primary Outcome Measures :
  1. Collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec [ Time Frame: 30 months ]
  2. Identify novel biomarkers and RNA molecular signature profiling [ Time Frame: 30 months ]
  3. Develop a predictive algorithm using artificial intelligence (AI) methodologies based on machine learning (ML), able to integrate clinical outcomes, patients' characteristics, and specific biomarkers [ Time Frame: 24 months ]

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05769465


Contacts
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Contact: Comitato Etico 0630156124 comitato.etico@policlinicogemelli.it

Locations
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Italy
Fondazione Policlinico Universitario Agostino Gemelli IRCCS Recruiting
Roma, Italy, 00168
Contact: Giorgia Coratti, PhD       giorgia.coratti@unicatt.it   
Sponsors and Collaborators
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Investigators
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Principal Investigator: Giorgia Coratti, PhD Fondazione Policlinico Universitario Agostino Gemelli IRCCS
More Information
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Responsible Party: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
ClinicalTrials.gov Identifier: NCT05769465    
Other Study ID Numbers: 5488
GR-2021-12374579 ( Other Grant/Funding Number: Italian Health Ministry )
First Posted: March 15, 2023    Key Record Dates
Last Update Posted: September 13, 2023
Last Verified: March 2023

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: No
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
 Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases