Clinical trial NCT06310421: Spinal Muscular Atrophy Neonatal Screening Program
Official title: Activation of the Spinal Muscular Atrophy Neonatal Screening Program and Integration With Cystic Fibrosis Screening. Feasibility Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Spinal Muscular Atrophy
Keywords: Spinal muscular atrophy
Newborn Screening
Lead sponsor: IRCCS Burlo Garofolo
Sponsor class: OTHER
First posted: 2024-03-15
Enrollment: 11500
Sex: ALL
Minimum age (years): 48
Maximum age (years): 72
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: ECOLOGIC_OR_COMMUNITY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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)

Brief 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. 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.


Eligibility criteria: INCLUSION CRITERIA

• Live births in the neonatologies and paediatric centers involved in the study.

EXCLUSION CRITERIA

• No consent signed by parents.

Primary outcomes:
measure: Rate of newborn screened
timeFrame: In the first 48-72 hours after birth
Secondary outcomes:
Other outcomes:
Locations:
city: Monfalcone
country: Italy
facility: SC Pediatria Gorizia - Monfalcone
state: Gorizia
city: Trieste
country: Italy
facility: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"
Study officials:
References: