Ignite Creation Date:
2024-05-06 @ 8:15 PM
Last Modification Date:
2024-10-26 @ 3:23 PM
Study NCT ID:
NCT06310421
Status:
RECRUITING
Last Update Posted:
2024-03-18
First Post:
2024-03-07
Brief Title:
Spinal Muscular Atrophy Neonatal Screening Program
Sponsor:
IRCCS Burlo Garofolo
Organization:
IRCCS Burlo Garofolo
Study Overview
Official Title:
Activation of the Spinal Muscular Atrophy Neonatal Screening Program and Integration With Cystic Fibrosis Screening Feasibility Study
Status:
RECRUITING
Status Verified Date:
2024-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 5q112-133 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 childs 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
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 childs 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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None