Spinal Muscular AtrophyNCT06310421
Spinal Muscular Atrophy Neonatal Screening Program
An observational study of Spinal Muscular Atrophy, run by IRCCS Burlo Garofolo at 2 sites in Italy.
Trial summary
Spinal muscular atrophy (SMA) is a group of disorders caused by the degeneration of the motor neuron cells of the anterior horn of the spinal cord and, in some subtypes, of the bulbar motor neurons. Almost all cases are genetically determined. Read more about this study
- Who is it for?
- Ages 48 to 72 hours
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- Screening SMA test
- How many people
- 11,500 participants
- Where
- 2 sitesItaly
- Study dates
- 16 Oct 2023to 31 May 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 48 to 72 hours
- All sexes
- No healthy volunteers
- Child
Study population: Newborn babies born at the Neonatology Unit of the Institute for Maternal and Child Health Burlo Garofolo, Trieste, and at the Pediatrics Unit of the Gorizia-Monfalcone Hospital (Friuli Venezia Giulia-Italy)
Who may be able to join
- Live births in the neonatologies and paediatric centers involved in the study.
Who cannot join
- No consent signed by parents.
Trial locations and contacts
2 sites in 1 country.
Stefania Zampieri contact
Italy2 sites, 2 recruiting
- Recruiting
SC Pediatria Gorizia - Monfalcone
Monfalcone, Gorizia
Danica Dragovic, MD, +39 0481 487252, danica.dragovic@asugi.sanita.fvg.it
- Recruiting
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"
Trieste, 34137
Sheila Ulivi, MSc, +36.040 3785 226, sheila.ulivi@burlo.trieste.it
Luca Ronfani, PhD MD, +39.040.3785.297, luca.ronfani@burlo.trieste.it
About this study
Official title: Activation of the Spinal Muscular Atrophy Neonatal Screening Program and Integration With Cystic Fibrosis Screening. Feasibility Study
Spinal muscular atrophy (SMA) is a group of disorders caused by the degeneration of the motor neuron cells of the anterior horn of the spinal cord and, in some subtypes, of the bulbar motor neurons. Almost all cases are genetically determined. Most SMAs are autosomal recessive diseases, caused by homozygous deletions of the survival motor neuron (SMN) gene located on the long arm of chromosome 5. The estimated incidence of recessive childhood and juvenile SMA linked to deletion of the SMN gene is 1 in 6000 to 10000 live births, with a carrier frequency of 1 in 35 in the general population, making it a major genetic cause of infant mortality. Up to 95-97% of all childhood cases are due to homozygous deletions of the survival motor neuron 1 (SMN1) gene, or telomeric SMN, located on chromosome 5q11.2-13.3. The remaining 3-5% of cases are due to small mutations in SMN1 (rather than complete deletions).
Until a few years ago, the prognosis of type 1 SMA was poor. In the absence of therapies, the only measures were supportive (ventilation, nutrition) and the prospect, especially in the early forms, was to accompany them towards an early end of life. There are currently three treatment options available: nusinersen, risdiplam, and gene therapy with onasemnogene abeparvovec. The three options were found to be equally effective in reducing the symptoms of the disease, making it possible to reach or safeguard fundamental stages in a child's neuromotor development, starting from the ability to remain seated. At this moment, gene therapy is probably the preferred choice. To date, in Italy, there are approximately 100 patients undergoing gene therapy.
To ensure maximum benefit for affected patients, it is essential that the therapy is administered as soon as possible. Literature shows how the administration of gene therapy in pre-symptomatic subjects made it possible to achieve a better neurological outcome compared to symptomatic patients. From this perspective, the inclusion of spinal muscular atrophy in neonatal screening is of fundamental relevance.
- Conditions
- Spinal Muscular Atrophy
- Being tested
- Screening SMA test
- Keywords
- Spinal muscular atrophy, Newborn Screening
- 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.
Screening SMA testDiagnostic test
Drops of blood from a puncture from the newborn's heel are collected, dried for 24 hours at room temperature and then sent to the laboratory for analysis. The screening test is a first-level molecular genetic test that allows the identification of patients affected by SMA who present the homozygous deletion of exon 7 of the SMN1 gene using the Real Time polymerase chain reaction (PCR) technique. This qualitative method is based on the use of specific fluorescent probes that discriminate the SMN1 gene from its survival motor neuron 2 (SMN2) homologue and also allow the quality assessment of genomic DNA through amplification of an internal control gene. When a positive testing patient is identified, the birth center is promptly notified to call the family and carry out a further blood sample aimed at confirming the possible diagnosis with a second level test.
| Study group | Role | What they receive |
|---|---|---|
| Screening group | The patient enrollment takes place at the Neonatology Unit of the Institute for Maternal and Child Health Burlo Garofolo and at the Pediatrics Unit of the Gorizia-Monfalcone Hospital, which are the only two birth centers in the area of the Giuliano-Isontina University Health Authority Receives: Diagnostic Test: Screening SMA test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate of newborn screened
Number of newborns screened per 100 live births
Measured: In the first 48-72 hours after birth
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Mar 2024
- Study start16 Oct 2023
- Primary completion31 May 2026 (estimated)
- Study completion31 May 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
- Ecologic or community
- Time perspective
- Prospective
- Enrolment
- 11,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Burlo Garofolo
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06310421
- Sponsor's protocol ID
- Screening_SMA
- Status last verified
- Mar 2024
- First submitted
- 7 Mar 2024
- Last updated
- 18 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 18 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Activation of the Spinal Muscular Atrophy Neonatal Screening Program and Integration With Cystic Fibrosis Screening. Feasibility Study
- ClinicalTrials.gov ID
- NCT06310421
- Acronym / sponsor ID
- Screening_SMA
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal muscular atrophy, Newborn Screening
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 11,500 participants (estimated)
- Lead sponsor
- IRCCS Burlo GarofoloUniversity, hospital or other
- Study start
- 16 Oct 2023 (actual)
- Primary completion
- 31 May 2026 (estimated)
- Study completion
- 31 May 2026 (estimated)
- First posted
- 15 Mar 2024 (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 a group of disorders caused by the degeneration of the motor neuron cells of the anterior horn of the spinal cord and, in some subtypes, of the bulbar motor neurons. Almost all cases are genetically determined. Most SMAs are autosomal recessive diseases, caused by homozygous deletions of the survival motor neuron (SMN) gene located on the long arm of chromosome 5. The estimated incidence of recessive childhood and juvenile SMA linked to deletion of the SMN gene is 1 in 6000 to 10000 live births, with a carrier frequency of 1 in 35 in the general population, making it a major genetic cause of infant mortality. Up to 95-97% of all childhood cases are due to homozygous deletions of the survival motor neuron 1 (SMN1) gene, or telomeric SMN, located on chromosome 5q11.2-13.3. The remaining 3-5% of cases are due to small mutations in SMN1 (rather than complete deletions).
Until a few years ago, the prognosis of type 1 SMA was poor. In the absence of therapies, the only measures were supportive (ventilation, nutrition) and the prospect, especially in the early forms, was to accompany them towards an early end of life. There are currently three treatment options available: nusinersen, risdiplam, and gene therapy with onasemnogene abeparvovec. The three options were found to be equally effective in reducing the symptoms of the disease, making it possible to reach or safeguard fundamental stages in a child's neuromotor development, starting from the ability to remain seated. At this moment, gene therapy is probably the preferred choice. To date, in Italy, there are approximately 100 patients undergoing gene therapy.
To ensure maximum benefit for affected patients, it is essential that the therapy is administered as soon as possible. Literature shows how the administration of gene therapy in pre-symptomatic subjects made it possible to achieve a better neurological outcome compared to symptomatic patients. From this perspective, the inclusion of spinal muscular atrophy in neonatal screening is of fundamental relevance.
Study design
- Observational model
- Ecologic or community
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Screening group | – | Diagnostic Test: Screening SMA testThe patient enrollment takes place at the Neonatology Unit of the Institute for Maternal and Child Health Burlo Garofolo and at the Pediatrics Unit of the Gorizia-Monfalcone Hospital, which are the only two birth centers in the area of the Giuliano-Isontina University Health Authority |
Who may qualify
- Ages
- 48 to 72 hours
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Newborn babies born at the Neonatology Unit of the Institute for Maternal and Child Health Burlo Garofolo, Trieste, and at the Pediatrics Unit of the Gorizia-Monfalcone Hospital (Friuli Venezia Giulia-Italy)
Key inclusion criteria (1 listed)
- Live births in the neonatologies and paediatric centers involved in the study.
Key exclusion criteria (1 listed)
- No consent signed by parents.
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 |
|---|---|---|
| Screening SMA testDrops of blood from a puncture from the newborn's heel are collected, dried for 24 hours at room temperature and then sent to the laboratory for analysis. The screening test is a first-level molecular genetic test that allows the identification of patients affected by SMA who present the homozygous deletion of exon 7 of the SMN1 gene using the Real Time polymerase chain reaction (PCR) technique. This qualitative method is based on the use of specific fluorescent probes that discriminate the SMN1 gene from its survival motor neuron 2 (SMN2) homologue and also allow the quality assessment of genomic DNA through amplification of an internal control gene. When a positive testing patient is identified, the birth center is promptly notified to call the family and carry out a further blood sample aimed at confirming the possible diagnosis with a second level test. | Diagnostic test | Screening group |
Primary outcome
Rate of newborn screened
Time frame: In the first 48-72 hours after birth
Number of newborns screened per 100 live births
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Mar 2024.
- Individual participant dataSharing planned: Undecided
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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.
Stefania Zampieri contact
2 sites 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 IRCCS Burlo Garofolo at 2 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: status not confirmed, as of the sponsor's last update on 18 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Sheila Ulivi (39 0403785226, sheila.ulivi@burlo.trieste.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of newborn screened (time frame: In the first 48-72 hours after birth). 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 18 Mar 2024.