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

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ClinicalTrials.gov Identifier: NCT04174157
Recruitment Status : Recruiting
First Posted : November 22, 2019
Last Update Posted : April 19, 2023
Sponsor:
Collaborator:
United BioSource, LLC
Information provided by (Responsible Party):
AveXis, Inc.

Study Description
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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.

Until recently, the mainstay of treatment for these patients was supportive medical care. However, advances in medical treatment focusing on gene replacement, gene enhancement, motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future.

The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options.


Condition or disease Intervention/treatment
Spinal Muscular Atrophy (SMA) Other: Prospective observational registry Drug: Zolgensma

Expanded Access : An investigational treatment associated with this study has been approved for sale to the public.   More info ...

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.
Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Ecologic or Community
Time Perspective: Prospective
Target Follow-Up Duration: 15 Years
Official Title: A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Actual Study Start Date : September 25, 2018
Estimated Primary Completion Date : June 30, 2038
Estimated Study Completion Date : June 30, 2038

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
Prospective observational registry
This is a prospective, multi center, multinational, non-interventional observational registry.
 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


Outcome Measures
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Primary Outcome Measures :
  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 Outcome Measures :
  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 ]

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study will enroll at least 500 patients with a diagnosis of SMA. The registry will attempt to enroll all patients treated with AVXS-101 in the registry during 5 years of recruitment.
Criteria

Inclusion Criteria:

  • Patients with SMA, genetically confirmed on or after 24 May 2018.
  • 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 that are participating in a Compassionate Use Program (CUP) for AVXS-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 genetic confirmation of SMA.

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04174157


Contacts
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Contact: Novartis Gene Therapies (former AveXis) Medinfo 1-833-828-3947 medinfo.gtx@novartis.com

Locations
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Sponsors and Collaborators
AveXis, Inc.
United BioSource, LLC
Investigators
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Study Director: Eric Faulkner Novartis Gene Therapies
More Information
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Publications:

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Responsible Party: AveXis, Inc.
ClinicalTrials.gov Identifier: NCT04174157    
Other Study ID Numbers: AVXS-101-RG-001
First Posted: November 22, 2019    Key Record Dates
Last Update Posted: April 19, 2023
Last Verified: April 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description:

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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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
 Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases