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

NCT04050852 | Withdrawn Early Phase 1 FDA Drug

• 1 other identifier: 19-00242
• Study Type: interventional
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (2)

• 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

Study Arms (1)

SMA patients receiving nusinersen treatments

EXPERIMENTAL

Drug: Nusinersen Treatments

Interventions

Nusinersen Treatments DRUG

Antisense oligonucleotide, which targets the SMN2 pre-mRNA, particularly exon 7.

Also known as: Spinraza

SMA patients receiving nusinersen treatments

Eligibility Criteria

• Age: 5 Years - 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

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

You may not qualify if:

• 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).

Sponsors & Collaborators

• NYU Langone Health: lead
• Winthrop University Hospital: collaborator

Study Sites (1)

NYU Langone Health

New York, New York, 10016, United States

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Interventions

nusinersen

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Melodi Pirzada, MD

  New York Langone Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 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.

Study Record Dates

• First Submitted: August 7, 2019
• First Posted: August 8, 2019
• Study Start: July 17, 2019
• Primary Completion: April 1, 2021
• Study Completion: April 1, 2021
• Last Updated: June 29, 2021

Record last verified: 2021-06

Locations

US (1)