Spinal Muscular AtrophyMAP_THE_SMA-01NCT05769465
MAP THE SMA: a Machine-learning Based Algorithm to Predict THErapeutic Response in Spinal Muscular Atrophy
An observational study of Spinal Muscular Atrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- disease modifying treatments
- How many people
- 247 participants
- Where
- 1 siteItaly
- Study dates
- 1 Apr 2023to 1 Apr 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- confirmed genetic diagnosis of SMA (5q)
- clinical phenotype of type I or II or III;
- able to provide (patient/caregiver) written informed consent
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Roma, 00168
Giorgia Coratti, PhD, giorgia.coratti@unicatt.it
About this study
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:
Read more
- 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
- Being tested
- disease modifying treatments
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
disease modifying treatmentsDrug
Patients will be enrolled if exposed to nusinersen, risdiplam, onasemnogene abeparvovec
| Study group | Role | What they receive |
|---|---|---|
| Patients treated with nusinersen | Not described Receives: Drug: disease modifying treatments | |
| Patients treated with risdiplam | Not described Receives: Drug: disease modifying treatments | |
| Patients treated with onasemnogene abeparvovec | Not described Receives: Drug: disease modifying treatments | |
| Patients naive from disease modifying treatments | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec
Measured: 30 months
Identify novel biomarkers and RNA molecular signature profiling
Measured: 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
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Mar 2023
- Study start1 Apr 2023
- Primary completion1 Nov 2025 (estimated)
- Study completion1 Apr 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 247 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Giorgia Coratti, PhD, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05769465
- Sponsor's protocol ID
- 5488
- Other IDs
- GR-2021-12374579
- Acronym
- MAP_THE_SMA-01
- Status last verified
- Mar 2023
- First submitted
- 3 Mar 2023
- Last updated
- 13 Sep 2023
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- MAP THE SMA: a Machine-learning Based Algorithm to Predict THErapeutic Response in Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT05769465
- Acronym / sponsor ID
- MAP_THE_SMA-01 / 5488
- Conditions
- Spinal Muscular Atrophy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 247 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 1 Apr 2023 (actual)
- Primary completion
- 1 Nov 2025 (estimated)
- Study completion
- 1 Apr 2026 (estimated)
- First posted
- 15 Mar 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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 | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- confirmed genetic diagnosis of SMA (5q)
- clinical phenotype of type I or II or III;
- able to provide (patient/caregiver) written informed consent
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| disease modifying treatmentsPatients will be enrolled if exposed to nusinersen, risdiplam, onasemnogene abeparvovec | Drug | Patients treated with nusinersen, Patients treated with onasemnogene abeparvovec, Patients treated with risdiplam |
Primary outcome
Collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec
Time frame: 30 months
Identify novel biomarkers and RNA molecular signature profiling
Time frame: 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
Time frame: 24 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Sep 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Giorgia Coratti, PhD principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 13 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Comitato Etico (0630156124, comitato.etico@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec (time frame: 30 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Sep 2023.