Pulmonary Function Test Changes and Respiratory Muscle Strength Trends in Spinal Muscular Atrophy Patients Receiving Nusinersen Treatments

Overview

It is well known that patients with spinal muscular atrophy (SMA) have progressive decline of respiratory muscle function. Therapy traditionally involved supportive means to ensure optimal nutrition and airway clearance. Nusinersen (spinraza) is a disease-modifying medication approved for treatment of SMA in pediatric and adult patients. The goal of this study is to observe pulmonary function test (PFT) changes and respiratory muscle strength trends throughout the first year of treatment. A prospective, longitudinal study measuring pulmonary function testing (PFTs) changes in spinal muscular atrophy (SMA) patients. Patients will be patients with SMA who are approved and maintained on nusinersen. Patient will have a baseline PFT. Investigators will repeat PFT at 3, 6, and 12 months while on nusinersen treatment.

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Treatment
    • Masking: None (Open Label)
  • Study Primary Completion Date: April 1, 2021

Interventions

  • Drug: Nusinersen Treatments
    • Antisense oligonucleotide, which targets the SMN2 pre-mRNA, particularly exon 7.

Arms, Groups and Cohorts

  • Experimental: SMA patients receiving nusinersen treatments

Clinical Trial Outcome Measures

Primary Measures

  • percent improvement Maximum inspiratory pressure (MIP)
    • Time Frame: 3, 6, and 12 months
    • is the pressure developed during forceful inspiration against an occlusion. It is measured at end expiratory phase (near residual volume) and assesses inspiratory muscle strength (diaphragm, external intercostal muscles, and accessory muscles). Normal values for healthy adult females -50 cmH2O and healthy males -75 cmH2O.
  • percent improvement Maximum expiratory pressure (/MEP)
    • Time Frame: 3, 6, and 12 months
    • the pressure developed during forceful expiration against an occlusion. It is measured at end inspiratory phase (near TLC) and assesses expiratory muscle strength (abdominal muscles, internal intercostal muscles, and accessory muscles). Normal values for healthy adult females +80 cmH2O and healthy males +100 cmH2O.

Participating in This Clinical Trial

Inclusion Criteria

  • Patients diagnosed with SMA of any type who are eligible to start nusinersen treatments at NYU Winthrop Hospital. Exclusion Criteria:

  • Patients unable to comply with nusinersen treatments according to recommended schedule (first 3 doses every 2 weeks, then the 4th dose is administered 1 month after the 3rd dose, and then maintenance dose administered every 4 months).

Gender Eligibility: All

Minimum Age: 5 Years

Maximum Age: 21 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • NYU Langone Health
  • Collaborator
    • Winthrop University Hospital
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Melodi Pirzada, MD, Principal Investigator, New York Langone Medical Center

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