Muscular Atrophy, SpinaliSMARNCT05755451
Natural History of SMA
An observational study of Muscular Atrophy, Spinal, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 5 sites in Italy.
Trial summary
This is an investigator initiated observational study with the aim to record several aspects of function, care and adverse events in a large cohort of SMA patients followed longitudinally by using a structured academic disease registry. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Muscular Atrophy, Spinal
- How many people
- 1,200 participants
- Where
- 5 sitesItaly
- Study dates
- 21 Jun 2018to 30 Dec 2033
- How long will I take part?
- 15 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: all pèatients with mutations in the SMN1 gene
Who may be able to join
- all patients
Who cannot join
- if enrolled in clinical trials
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
Italy5 sites, 5 recruiting
- Recruiting
Istituto Gaslini
Genova
Claudio Bruno
- Recruiting
Nemo Sud
Messina
Sonia Messina
- Recruiting
Centro Clinico nemo
Milan
Valeria Sansone
- Recruiting
Ospedale Bambino gesu
Rome
Adele D'Amico
- Recruiting
Policlinico gemelli
Rome
Eugenio Mercuri, 063015 ext. 5340, eugeniomaria.mercuri@policlinicogemelli.it
About this study
Official title: Natural History of SMA: Long Term Longitudinal Study and Development of a Registry
This is an investigator initiated observational study with the aim to record several aspects of function, care and adverse events in a large cohort of SMA patients followed longitudinally by using a structured academic disease registry.
Read the detailed description
This is an observational multicenter retrospective and prospective study involving high quality data collected in 5 academic centers in Italy, the registry aims to
- better understand the natural history of the disease in untreated patients identifying factors that can influence disease progression by combining retrospective and prospective data.
- Describe the patterns of disease progression (in terms of functional measure, adverse events, levels of care, and hospitalization) in treated and untreated patients
- Identify all the patients treated with the available therapies in Italy, providing first line details on epidemiological data in a wider network including all centers recognized as centers for spinal muscular atrophy (SMA) in each region.
As part of the activity clinical evaluators, data manager and sub-investigators are also trained and use common manuals of operation to ensure reliability across the participating centers. The registry provides accurate and reliable information on natural history including results from currently used functional measures. The registry also includes information on supportive care, hospitalization and adverse events.
Details of the electronic clinical file record including data assembly and the platform used are available as part of a peer reviewed paper
- Conditions
- Muscular Atrophy, Spinal
- Keywords
- natural history, 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.
motor function
functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance
Measured: 15 years
Secondary outcomes (2)
respiratory function
Forced Vital Capacity, need for ventilatory support
Measured: 15 years
nutrition
need for nutritional support using Oral and Swallowing Abilities Tool (OrSAT) with a minimum score of 0 and a maximum score of 12 indicating best performance
Measured: 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2023
- Study start21 Jun 2018
- Primary completion30 Dec 2033 (estimated)
- Study completion30 Dec 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular Atrophy, SpinalStudies 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
- 1,200 participants (estimated)
- Target duration
- 15 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- University of Milan, Istituto Giannina Gaslini, Ospedale Pediatrico Bambin Gesù, University of Messina
- Responsible party
- Sponsor
- Investigators
- Eugenio Mercuri, MD, Principal investigator, F Policlinico Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05755451
- Sponsor's protocol ID
- 1894
- Acronym
- iSMAR
- Status last verified
- Feb 2023
- First submitted
- 8 Feb 2023
- Last updated
- 6 Mar 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: aggregate data only
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of SMA: Long Term Longitudinal Study and Development of a Registry
- ClinicalTrials.gov ID
- NCT05755451
- Acronym / sponsor ID
- iSMAR / 1894
- Conditions
- Muscular Atrophy, Spinal
- Keywords
- natural history, spinal muscular atrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,200 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Collaborators
- University of Milan, Istituto Giannina Gaslini, Ospedale Pediatrico Bambin Gesù, University of Messina
- Study start
- 21 Jun 2018 (actual)
- Primary completion
- 30 Dec 2033 (estimated)
- Study completion
- 30 Dec 2033 (estimated)
- First posted
- 6 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.
This is an investigator initiated observational study with the aim to record several aspects of function, care and adverse events in a large cohort of SMA patients followed longitudinally by using a structured academic disease registry.
Detailed description
This is an observational multicenter retrospective and prospective study involving high quality data collected in 5 academic centers in Italy, the registry aims to
- better understand the natural history of the disease in untreated patients identifying factors that can influence disease progression by combining retrospective and prospective data.
- Describe the patterns of disease progression (in terms of functional measure, adverse events, levels of care, and hospitalization) in treated and untreated patients
- Identify all the patients treated with the available therapies in Italy, providing first line details on epidemiological data in a wider network including all centers recognized as centers for spinal muscular atrophy (SMA) in each region.
As part of the activity clinical evaluators, data manager and sub-investigators are also trained and use common manuals of operation to ensure reliability across the participating centers. The registry provides accurate and reliable information on natural history including results from currently used functional measures. The registry also includes information on supportive care, hospitalization and adverse events.
Details of the electronic clinical file record including data assembly and the platform used are available as part of a peer reviewed paper
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 15 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- all pèatients with mutations in the SMN1 gene
Key inclusion criteria (1 listed)
- all patients
Key exclusion criteria (1 listed)
- if enrolled in clinical trials
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
motor function
Time frame: 15 years
functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance
2 secondary outcomes
respiratory function
Time frame: 15 years
nutrition
Time frame: 15 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2023.
- Individual participant dataSharing planned: No. aggregate data only
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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.
Eugenio Mercuri, MD principal investigator
F Policlinico Gemelli IRCCS
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Muscular Atrophy, Spinal, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 5 sites 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 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: looking for participants now, as of the sponsor's last update on 6 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Eugenio Mercuri, MD (06 3015 ext. 5340, eugeniomaria.mercuri@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
motor function (time frame: 15 years). 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 6 Mar 2023.