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 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases.
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.
Brief Title
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Detailed Description
This is a prospective, multi center, multinational, non-interventional observational study. All patients will be managed according to the clinical site's normal clinical practice, i.e., the diagnostic and clinical treatment/practice 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.
Categories
Central Contacts
Central Contact Role
Contact
Central Contact Phone
1-888-669-6682
Central Contact Email
novartis.email@novartis.com
Central Contact Role
Contact
Central Contact Phone
+4161324111
Completion Date
Completion Date Type
Estimated
Conditions
Spinal Muscular Atrophy (SMA)
Eligibility Criteria
Inclusion Criteria:
* Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.
* Appropriate consent/assent has been obtained for participation in the registry
Exclusion Criteria:
- Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA.
Note: Patients who are participating in a Compassionate Use Program (CUP) for OAV-101 (Zolgensma) such as a Managed Access Program (MAP), an Expanded Access Program (EAP), Single Patient Investigational New Drug (IND) (SPI) or Named Patient Program (NPP) are eligible to enroll in the registry regardless of the date of a genetic or clinical diagnosis of SMA.
* Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.
* Appropriate consent/assent has been obtained for participation in the registry
Exclusion Criteria:
- Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA.
Note: Patients who are participating in a Compassionate Use Program (CUP) for OAV-101 (Zolgensma) such as a Managed Access Program (MAP), an Expanded Access Program (EAP), Single Patient Investigational New Drug (IND) (SPI) or Named Patient Program (NPP) are eligible to enroll in the registry regardless of the date of a genetic or clinical diagnosis of SMA.
Inclusion Criteria
Inclusion Criteria:
* Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.
* Appropriate consent/assent has been obtained for participation in the registry
* Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.
* Appropriate consent/assent has been obtained for participation in the registry
Gender
All
Gender Based
false
Healthy Volunteers
No
Last Update Post Date
Last Update Post Date Type
Actual
Last Update Submit Date
NCT Id
NCT04174157
Org Class
Industry
Org Full Name
Novartis
Org Study Id
COAV101A12001
Overall Status
Recruiting
Primary Completion Date
Primary Completion Date Type
Estimated
Official Title
A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Primary Outcomes
Outcome Measure
Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate
Outcome Time Frame
Based on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up.
Outcome Description
CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function
Outcome Measure
Change from baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in infants with pre-symptomatic or type I SMA
Outcome Time Frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Description
HINE score range from 0 to 26 with higher scores indicating more development.
Outcome Measure
Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA
Outcome Time Frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Description
HFMSE score range from 0 to 66 with the higher scores indicating more development.
Outcome Measure
Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA
Outcome Time Frame
Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Incidence of treatment emergent adverse events
Outcome Time Frame
Through 15 years of follow up
Outcome Measure
Incidence of treatment emergent serious adverse events
Outcome Time Frame
Through 15 years of follow up
Outcome Measure
Incidence of treatment emergent adverse events related to therapy
Outcome Time Frame
Through 15 years of follow up
Outcome Measure
Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events
Outcome Time Frame
Through 15 years of follow up
Secondary Outcomes
Outcome Time Frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Change from baseline in rates of hospitalization
Outcome Description
Zarit Burden Total Score ranges from 0 to 88. A higher score correlates with higher level of burden.
Outcome Time Frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Change from baseline in Zarit Burden Interview
Outcome Description
PedsQL Total Scale Score is average of all items and ranges from 0 to 100. A higher score correlates with better Health-Related Quality of Life
Outcome Time Frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Change from baseline in PedsQL Patient interview
Outcome Description
PedsQL Total Scale Score is average of all items and ranges from 0 to 100. A higher score correlates with better Health-Related Quality of Life
Outcome Time Frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Change from baseline in PedsQL Parent interview
Outcome Time Frame
: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Change from baseline in percent of patients requiring ventilator support (BiPAP, Endotracheal tube)
Outcome Time Frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Change from baseline in in percent of patients requiring nutritional support (Gastrostomy Tube, Gastrojejunal tube (GT) with Nissen fundoplication, GT without Nissen fundoplication, Nasogastrictube, Nasojejunaltube or Percutaneous endoscopic gastrostomy)
Outcome Time Frame
: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Outcome Measure
Change from baseline in in percent of patients requiring mobility device support (Ankle-Foot Orthoses, Supramalleolar Orthosis, Orthotic/shoe inserts, Knee immobilizers, Knee-Ankle-Foot Orthoses , Hand splints, Spinal bracing)
Start Date
Start Date Type
Actual
Status Verified Date
First Post Date
First Post Date Type
Actual
First Submit Date
First Submit QC Date
Study Population
The study will enroll at least 500 patients with a genetically confirmed diagnosis of SMA. The registry will attempt to enroll all patients treated with OAV-101 in the registry until the end of 2026.
Std Ages
Child
Adult
Older Adult
Maximum Age Number (converted to Years and rounded down)
999
Minimum Age Number (converted to Years and rounded down)
0
Investigators
Investigator Type
Principal Investigator
Investigator Name
LESLIE DELFINER
Investigator Email
ldelfine@montefiore.org
Investigator Phone
718-9250-4378