Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Novartis Pharmaceuticals700 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

700

Conditions

Spinal Muscular Atrophy (SMA)

Interventions

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

Locations (99)

Phoenix Children's Hospital

Phoenix, Arizona, United States

RECRUITING

Arkansas Children's Hospital

Little Rock, Arkansas, United States

RECRUITING

Loma Linda University Health

Loma Linda, California, United States

COMPLETED

Children's Hospital of Los Angeles

Los Angeles, California, United States

Outcomes

Primary Outcomes

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

Secondary Outcomes

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)

Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Overview

Conditions

Interventions

Eligibility

Locations (99)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts