An observational study in Spinal Muscular Atrophy (SMA), sponsored by Novartis Pharmaceuticals. Recruiting at 99 sites in 11 countries. Per ClinicalTrials.gov, last updated 2025-01-31.
Sponsored by Novartis Pharmaceuticals (part of Novartis) · Observational
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.
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.
282 studies on the registry are indexed under Muscular Atrophy, Spinal; 73 are open to participants now.
This study's planned enrollment of 700 is above the median of 139 across 114 observational studies indexed under Muscular Atrophy, Spinal.
Browse Muscular Atrophy, Spinal studies →Novartis Pharmaceuticals is the lead sponsor of 2,718 studies on the registry; 221 are open to participants now.
Of its 585 completed or terminated interventional studies of FDA-regulated products, 438 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
This is a prospective, multi center, multinational, non-interventional observational registry.
Other: Prospective observational registry · Drug: Zolgensma
This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.
Zolgensma 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
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.
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 up
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 up
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 up
Incidence of treatment emergent adverse events
Time frame: Through 15 years of follow up
Incidence of treatment emergent serious adverse events
Time frame: Through 15 years of follow up
Incidence of treatment emergent adverse events related to therapy
Time frame: Through 15 years of follow up
Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events
Time frame: Through 15 years of follow up
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 up
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 up
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 up
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 up
Change from baseline in percent of patients requiring ventilator support (BiPAP, Endotracheal tube)
Time frame: : Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
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)
Time frame: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
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)
Time frame: : Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
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Plan to share: Undecided — Authorship of planned manuscripts for submission to medical journals shall be determined in accordance with the International Committee of Medical Journal Editors (ICMJE) Uniform Requirements for Manuscripts Submitted to Biomedical Journals (www.icmje.org). The physician agrees that if the physician is part of a multi-center registry, the physician shall coordinate in advance any intended disclosure of the results of the registry with Novartis Gene Therapies to ensure that the results of individual physicians are not published or presented before those of the multi-center registry, unless otherwise agreed to in writing by Novartis Gene Therapies.
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