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

Study Overview
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Brief Summary
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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.

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

Conditions
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Spinal Muscular Atrophy

Intervention / Treatment
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* Drug: Nusinersen Treatments


Participation Criteria
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Eligibility Criteria
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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).

Ages Eligible for Study
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Minimum Age: 5 Years
Maximum Age: 21 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Interventional Model Description: 5-10 patients with spinal muscular atrophy (SMA), ages 5 years old and above, who have already consented to nusinersen treatment, or have already initiated nusinersen (spinraza) treatments at NYU Winthrop Hospital.
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: SMA patients receiving nusinersen treatments<br> | Drug: Nusinersen Treatments<br>* Antisense oligonucleotide, which targets the SMN2 pre-mRNA, particularly exon 7.<br>* Other names: Spinraza;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| percent improvement Maximum inspiratory pressure (MIP) | 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. | 3, 6, and 12 months | 
| percent improvement Maximum expiratory pressure (/MEP) | 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. | 3, 6, and 12 months |