NCT04174157 · Novartis Pharmaceuticals
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
What this study is about
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.
View original scientific description
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.
Interventions
OTHER
Prospective observational registry
This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.
DRUG
Zolgensma
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
Primary outcome measures
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
Time frame: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function
Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA
Time frame: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
HINE score range from 0 to 26 with higher scores indicating more development.
Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA
Time frame: Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up
HFMSE score range from 0 to 66 with the higher scores indicating more development.
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
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- Phoenix, Arizona
- Little Rock, Arkansas
- Loma Linda, California
- Los Angeles, California
- Madera, California
- Sacramento, California
- San Diego, California
- Aurora, Colorado
- Farmington, Connecticut
- New Haven, Connecticut
- Fort Myers, Florida
- Miami, Florida
And 36 more locations — see the full list below.
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jan 31, 2025 · Source of record for eligibility and locations