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NCT Number: NCT04174157

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

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.

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Key information

Conditions

Spinal Muscular Atrophy (SMA) Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

University General Hospital Attikon, Chaïdári, Athens, Greece

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Prospective observational registry

Other

This prospective observational registry will assess long-term outcomes of patients with a diagnosis of SMA.

Zolgensma

Drug

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 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

    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

  3. 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.

  4. 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.

  5. Incidence of treatment emergent adverse events

    Time frame: Through 15 years of follow up

  6. Incidence of treatment emergent serious adverse events

    Time frame: Through 15 years of follow up

  7. Incidence of treatment emergent adverse events related to therapy

    Time frame: Through 15 years of follow up

  8. Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events

    Time frame: Through 15 years of follow up

Secondary 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 up

  2. Change from baseline in Zarit Burden Interview

    Time frame: Baseline 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.

  3. Change from baseline in PedsQL Patient interview

    Time frame: Baseline 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

  4. Change from baseline in PedsQL Parent interview

    Time frame: Baseline 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

  5. 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

  6. 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

  7. 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

Study contacts

Contact information is provided by the study sponsor or research team.

Novartis Gene Therapies

CONTACT

[email protected]

1-888-669-6682

Novartis Gene Therapies

CONTACT

+4161324111

Sponsors and collaborators

Lead sponsor

Novartis Pharmaceuticals

Industry

Registry information

Official study title

A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Important dates

Study start
2018
Primary completion
2038
Study completion
2038
First posted
Nov 22, 2019
Registry last updated
Jan 31, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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