Spinal Muscular AtrophyNCT05866939
Development of a Multidisciplinary Network for Clinical and Laboratory Research for SMA
An observational study of Spinal Muscular Atrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
Trial summary
The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 400 participants
- Where
- No sites listed yet
- Study dates
- 30 Jun 2023to 30 Jun 2025
- 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
- Child, Adult, Older adult
Study population: Patients with spinal muscular atrophy regardless of age, type of SMA or treatment
Who may be able to join
- All SMA patients
Who cannot join
- Inability to understand or to provide informed consent.
About this study
Official title: Development of a Multidisciplinary Network for Clinical and Laboratory Research for Spinal Muscular Atrophy and Other Rare Motoneuron Diseases
The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests.
Another goal of the study is to assess the progression of the disease in patients identified through neonatal screening.
Read the detailed description
The collection of 2-year longitudinal clinical data will be conducted in newly treated patients at baseline, 6-, 12-, 14- and 22-months post-treatment. Parameters will include motor function, fatigability, respiratory function, event-free survival and death, and swallowing and feeding modalities. It is anticipated that at least 30 new patients will be enrolled in the study.
Importantly, information will also be collected on patients who may decide to switch treatment during the duration of our study, trying to establish if the switch to a new drug (or as an add-on should patients take a new treatment after being treated with gene therapy) may be associated with changes in clinical phenotype.
The aim is to apply a newly established clinical protocol that allows identifying minor signs of disease that are easily missed in the absence of an NBS-detected diagnosis. Indeed, not all infants identified as SMA-positive through the NBS are truly asymptomatic, as a proportion of them may appear paucisymptomatic and their minor signs could be possibly not detected in the absence of a positive screening test.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- spinal muscular atrophy
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests.
Measured: 2-year
Assess the progression of the disease in patients identified through neonatal screening
Measured: 2-year
Identification of molecular biomarkers that associate with disease course and response to therapies
Measured: 2-year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2023
- Study start30 Jun 2023 (estimated)
- Primary completion30 Jun 2024 (estimated)
- Study completion30 Jun 2025 (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.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Ospedale Pediatrico Bambin Gesù, IRCCS Eugenio Medea, Azienda Ospedaliera Universitaria Policlinico "G. Martino"
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05866939
- Sponsor's protocol ID
- 5496
- Status last verified
- Apr 2023
- First submitted
- 18 Apr 2023
- Last updated
- 19 May 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of a Multidisciplinary Network for Clinical and Laboratory Research for Spinal Muscular Atrophy and Other Rare Motoneuron Diseases
- ClinicalTrials.gov ID
- NCT05866939
- Acronym / sponsor ID
- 5496
- Conditions
- Spinal Muscular Atrophy
- Keywords
- spinal muscular atrophy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Collaborators
- Ospedale Pediatrico Bambin Gesù, IRCCS Eugenio Medea, Azienda Ospedaliera Universitaria Policlinico "G. Martino"
- Study start
- 30 Jun 2023 (estimated)
- Primary completion
- 30 Jun 2024 (estimated)
- Study completion
- 30 Jun 2025 (estimated)
- First posted
- 19 May 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.
The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests.
Another goal of the study is to assess the progression of the disease in patients identified through neonatal screening.
Detailed description
The collection of 2-year longitudinal clinical data will be conducted in newly treated patients at baseline, 6-, 12-, 14- and 22-months post-treatment. Parameters will include motor function, fatigability, respiratory function, event-free survival and death, and swallowing and feeding modalities. It is anticipated that at least 30 new patients will be enrolled in the study.
Importantly, information will also be collected on patients who may decide to switch treatment during the duration of our study, trying to establish if the switch to a new drug (or as an add-on should patients take a new treatment after being treated with gene therapy) may be associated with changes in clinical phenotype.
The aim is to apply a newly established clinical protocol that allows identifying minor signs of disease that are easily missed in the absence of an NBS-detected diagnosis. Indeed, not all infants identified as SMA-positive through the NBS are truly asymptomatic, as a proportion of them may appear paucisymptomatic and their minor signs could be possibly not detected in the absence of a positive screening test.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with spinal muscular atrophy regardless of age, type of SMA or treatment
Key inclusion criteria (1 listed)
- All SMA patients
Key exclusion criteria (1 listed)
- Inability to understand or to provide informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests.
Time frame: 2-year
Assess the progression of the disease in patients identified through neonatal screening
Time frame: 2-year
Identification of molecular biomarkers that associate with disease course and response to therapies
Time frame: 2-year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 May 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.
The record lists no contact. Use the official record to reach the sponsor.
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.
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 1 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 19 May 2023. Status can change between updates, so confirm with the study contact before making plans.
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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery of clinical tests. (time frame: 2-year). 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 19 May 2023.