Ignite Creation Date:
2024-05-06 @ 1:59 PM
Last Modification Date:
2024-10-26 @ 1:22 PM
Study NCT ID:
NCT04174157
Status:
RECRUITING
Last Update Posted:
2023-04-19
First Post:
2019-09-12
Brief Title:
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy SMA
Sponsor:
AveXis Inc
Organization:
AveXis Inc
Study Overview
Official Title:
A Prospective Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy SMA
Status:
RECRUITING
Status Verified Date:
2023-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
True
If Expanded Access, NCT#:
NCT03955679
Has Expanded Access, NCT# Status:
APPROVED_FOR_MARKETING
Acronym:
None
Brief Summary:
Spinal muscular atrophy SMA is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene SMN1 on chromosome 5q13 which leads to reduced SMN protein levels and a selective dysfunction of motor neurons SMA is an autosomal recessive early childhood disease with an incidence of 110000 live births SMA is the leading cause of infant mortality due to genetic diseases
Until recently the mainstay of treatment for these patients was supportive medical care However advances in medical treatment focusing on gene replacement gene enhancement motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options
Until recently the mainstay of treatment for these patients was supportive medical care However advances in medical treatment focusing on gene replacement gene enhancement motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options
Detailed Description:
This is a prospective multi center multinational non-interventional observational study All patients will be managed according to the clinical sites normal clinical practice ie the diagnostic and clinical treatmentpractice process that a clinician chooses according to their clinical judgement for an SMA patient Clinical care will not be driven by the protocol No additional visits or investigations will be performed beyond normal clinical practice Patients will be followed for 15 years from enrolment or until death whichever is sooner
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
True
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