Spinal Muscular Atrophy Neonatal Screening Program

IRCCS Burlo Garofolo

Status: Enrolling

Conditions: Spinal Muscular Atrophy

Treatments: Diagnostic Test: Screening SMA test

Study type: Observational

Funder types: Other

Identifiers

NCT06310421

Screening_SMA

Details and patient eligibility

About

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.

Enrollment: 11,500 estimated patients

Sex: All

Ages: 48 to 72 hours old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

INCLUSION CRITERIA

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

EXCLUSION CRITERIA

• No consent signed by parents.

Trial design

11,500 participants in 1 patient group

Screening group

Description:

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

Treatment:

Diagnostic Test: Screening SMA test