Spinal Muscular Atrophy
Conditions
Brief summary
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.
Interventions
DRUGNusinersen Treatments
Antisense oligonucleotide, which targets the SMN2 pre-mRNA, particularly exon 7.
Sponsors
Winthrop University Hospital
NYU Langone Health
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention 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.
Eligibility
Sex/Gender
ALL
Age
5 Years to 21 Years
Healthy volunteers
No
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| percent improvement Maximum inspiratory pressure (MIP) | 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) | 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. |
Countries
United States
Outcome results
None listed