Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
ConditionSpinal Muscular Atrophy (SMA)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorNovartis Pharmaceuticals
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
None
Trial 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.
Trial design
Design model
Ecologic or community
Time perspective
Prospective
Treatments tested in this trial
Prospective observational registry
Other interventionThis prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.
Zolgensma
DrugZolgensma will be given to patients as per normal clinical practice and clinical care will not be mandated by the protocol. As such, the decision to prescribe Zolgensma is separate from the decision to include the patient in this study
Treatment groups
700 Participants
are divided into 1 treatment groupGroup A: Prospective observational registry2 interventions
Trial outcomes
Primary outcomes
1
Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate
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.2
Change from baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in infants with pre-symptomatic or type I SMA
CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function
Time frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up3
Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA
HINE score range from 0 to 26 with higher scores indicating more development.
Time frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up4
Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA
HFMSE score range from 0 to 66 with the higher scores indicating more development.
Time frame
Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow upSecondary outcomes
1
Change from baseline in rates of hospitalization
Time frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up2
Change from baseline in Zarit Burden Interview
Zarit Burden Total Score ranges from 0 to 88. A higher score correlates with higher level of burden.
Time frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up3
Change from baseline in PedsQL Patient interview
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
Time frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up4
Change from baseline in PedsQL Parent interview
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
Time frame
Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow upSponsors and contacts
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Source ClinicalTrials.gov