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NCT Number: NCT05335876

Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials

This is a global, prospective, multi-center study that is designed to assess the long-term safety and efficacy of OAV101 in patients who participated in an OAV101 clinical trial. The assessments of safety and efficacy in Study COAV101A12308 will continue for 5 years after enrollment in this study.

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Spinal Muscular Atrophy (SMA) Atrophy Bulbo-Spinal Atrophy, X-Linked Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Motor Neuron Disease Muscular Atrophy Muscular Atrophy, Spinal Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Diseases Neuromuscular Manifestations Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Signs and Symptoms Spinal Cord Diseases

Age range

0 year–100 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 3

Primary location

Novartis Investigative Site, Sydney, New South Wales, Australia

Loading trial locations.

About this study

The study is comprised of a Baseline Visit and 2 Follow-up Periods. For Follow-up Periods 1 and 2, which includes Baseline through Year 5 visits, assessments will be performed at the Investigational site. For the first 2 years (Follow-up Period 1), visits will occur every 6 months. For Years 3 to 5 (Follow-up Period 2) follow-up visits will be conducted annually. All patients will enter the study at the baseline visit and continue for 5 years.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Participated in an OAV101 clinical trial.
  • Written informed consent must be obtained before any assessment is performed.
  • Patient/Parent/legal guardian willing and able to comply with study procedures.

Exclusion criteria

There are no exclusion criteria for this study.

Treatment and study plan

onasemnogene abeparvovec

Biological

Onasemnogene abeparvovec is a non-replicating recombinant adeno-associated virus serotype 9 containing the human survival motor neuron gene under the control of the ytomegalovirus enhancer/chicken β-actin-hybrid promoter. Onasemnogene abeparvovec is administered as a one-time intravenous (IV) infusion or intrathecal (IT) injection. Dosage determined by participant weight.

Other names: Zolgensma

Primary outcomes

  1. Number of participants with treatment-emergent serious adverse events (SAEs)

    Time frame: Up to Year 5

    An SAE is defined as any adverse event [appearance of (or worsening of any pre-existing)] undesirable sign(s), symptom(s), or medical conditions(s) which meets any one of the following criteria:

    • fatal
    • life-threatening
    • results in persistent or significant disability/incapacity
    • constitutes a congenital anomaly/birth defect, fetal death or congenital abnormality or birth defect
    • requires in-patient hospitalization or prolongation of existing hospitalization, unless hospitalization is for routine treatment or monitoring of the studied indication, not associated with any deterioration in condition
    • is medically significant, e.g. defined as an event that jeopardizes the participant or may require medical or surgical intervention to prevent one of the outcomes listed above

  2. Number of participants with treatment emergent Adverse Events of Special Interest (AESI)

    Time frame: Up to Year 5

    The following are important identified and important potential risks (AESI) associated with OAV101: Hepatotoxicity, Transient Thrombocytopenia, Cardiac adverse events, Sensory abnormalities suggestive of ganglionopathy, and Thrombotic microangiopathy. These will be assessed by the investigator.

Secondary outcomes

  1. The number of participants demonstrating each developmental milestone according to the Developmental Milestone Checklist

    Time frame: Up to Year 5

    The Developmental Milestone Checklist is a sponsor created list of items using relevant definitions obtained from World Health Organization Multicentre Growth Reference Study (WHO-MGRS). These will be assessed via the milestone checklist, formed of 6 yes/no questions. The developmental milestones are: sitting with support, hands-and-knees crawling, standing with assistance, walking with assistance, standing alone and walking alone. A yes response indicates that the patient reached a particular development milestone.

  2. The number of participants demonstrating maintenance of each developmental milestone according to the Developmental Milestone Checklist

    Time frame: Up to Year 5

    The Developmental Milestone Checklist is a sponsor created list of items using relevant definitions obtained from World Health Organization Multicentre Growth Reference Study (WHO-MGRS). These will be assessed via the milestone checklist, formed of 6 yes/no questions. The developmental milestones are: sitting with support, hands-and-knees crawling, standing with assistance, walking with assistance, standing alone and walking alone. A yes response indicates that the patient reached a particular development milestone.

  3. Change from Baseline in the Hammersmith Functional Motor Scale - Expanded (HFMSE) total score

    Time frame: Up to Year 5

    The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.

  4. Change from Baseline in the Revised Upper Limb Module (RULM) total score

    Time frame: Up to Year 5

    The RULM is a validated SMA specific assessment of motor performance in the upper limbs from childhood through adulthood in ambulatory and non-ambulatory individuals with SMA. The scale consists of 19 scorable items: 18 items scored on 0 (unable) to 2 (full achievement) scale, and one item that is scored from 0 (unable) to 1 (able). Total scores range from 0-37 points. Higher scores reflect higher level of motor ability.

  5. Systolic and diastolic blood pressure (mmHg)

    Time frame: Up to Year 5

  6. Number of patients with potentialy clinically significant vital sign findings - Respiratory Rate (breaths/min)

    Time frame: Up to Year 5

  7. Number of patients with potentialy clinically significant vital sign findings -Pulse Rate (beats/min)

    Time frame: Up to Year 5

  8. Number of patients with potentialy clinically significant vital sign findings -Temperature (Degrees Celsius)

    Time frame: Up to Year 5

  9. Number of patients with potentialy clinically significant vital sign findings -Oxygen saturation level (%).

    Time frame: Up to Year 5

    Oxygen saturation is the fraction of oxygen-saturated hemoglobin relative to total hemoglobin (unsaturated+saturated) in the blood and then multiplied by 100.

Sponsors and collaborators

Lead sponsor

Novartis Pharmaceuticals

Industry

Registry information

Official study title

Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 IT or OAV101 IV in Clinical Trials

Acronym: SPECTRUM

Important dates

Study start
2022
Primary completion
2031
Study completion
2031
First posted
Apr 20, 2022
Registry last updated
Jul 9, 2026

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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