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

Recruiting
Conditions
Spinal Muscular Atrophy (SMA)
Interventions
Other: Prospective observational registry
Registration Number
NCT04174157
Lead Sponsor
Novartis Pharmaceuticals
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.

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.

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
700
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.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Prospective observational registryProspective observational registryThis is a prospective, multi center, multinational, non-interventional observational registry.
Prospective observational registryZolgensmaThis is a prospective, multi center, multinational, non-interventional observational registry.
Primary Outcome Measures
NameTimeMethod
Incidence of treatment emergent serious adverse eventsThrough 15 years of follow up
Change in probability of survival of all patients with SMA using Kaplan Meier method to estimateBased on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up.
Incidence of treatment emergent adverse eventsThrough 15 years of follow up
Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMABaseline 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 thrombocytopenia, hepatotoxicity and cardiac adverse eventsThrough 15 years of follow up
Incidence of treatment emergent adverse events related to therapyThrough 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 SMABaseline 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 SMABaseline 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.

Secondary Outcome Measures
NameTimeMethod
Change from baseline in Zarit Burden InterviewBaseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

Zarit Burden Total Score ranges from 0 to 88. A higher score correlates with higher level of burden.

Change from baseline in PedsQL Patient interviewBaseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

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

Change from baseline in PedsQL Parent interviewBaseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

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

Change from baseline in percent of patients requiring ventilator support (BiPAP, Endotracheal tube): Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
Change from baseline in rates of hospitalizationBaseline 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): 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)Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up

Trial Locations

Locations (99)

Penteli Children's Hospital

🇬🇷

Penteli, Attikis, Greece

St. Sophia Children's Hospital

🇬🇷

Thessaloniki, Greece

Nikko Memorial Hospital

🇯🇵

Hokkaido, Japan

Dokkyo Medical University Saitama Medical Center

🇯🇵

Saitama, Japan

Seoul National University Children's Hospital

🇰🇷

Seoul, Korea, Republic of

Samsung Medical Centre

🇰🇷

Seoul, Korea, Republic of

Yongin Severance Hospital

🇰🇷

Yongin-si, Korea, Republic of

Uniwersytecki Szpital Dzieciec

🇵🇱

Lublin, Poland

CHUC - Hospital Pediatrico

🇵🇹

Coimbra, Portugal

Centro Hospitalar Universitaria de Lisboa Central, EPE

🇵🇹

Lisboa, Portugal

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Penteli Children's Hospital
🇬🇷Penteli, Attikis, Greece
Chrysanthi Tsimakidi
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