Adults With SMA Treated With Nusinersen

Spinal Muscular Atrophy Clinical Trial

Official title:

Characterizing Longitudinal Outcomes in Adults With SMA Treated With Nusinersen

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04591678
• Other study ID #: 2018H0311
• Status: Completed
• Start date: October 1, 2018
• Est. completion date: June 25, 2021

Study information

• Verified date: September 2021
• Source: Ohio State University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This is a single center, 22-month observational study of nusinersen treatment in adult patients with spinal muscular atrophy (SMA). There will be a total of seven visits. Nusinersen is provided as standard of care and not considered research in this study. Information will be collected regarding the general health, and function including muscle strength of, as well as any positive and/or adverse events experienced by the study participants.

Description:

This is a single center, 22-month observational study of nusinersen treatment in adult patients with SMA. There will be a total of five visits. All subjects will be evaluated at a screening visit no more than four weeks before starting their standard of care nusinersen treatment to determine their eligibility for participation. Eligible patients will complete their standard induction intrathecal nusinersen treatment on day 1, 15, 29 and 60 followed by maintenance doses every four months. Subjects will be reevaluated after completing the loading doses at 2 months followed by every four-month evaluations for the total duration of the treatment of 22 months. Currently, there is no data published on patients receiving this treatment over the age of 18. Without published data collected from research, it is difficult for adult patients to get approval from their insurance companies to receive this treatment. This study hopes to collect data, in order to make this treatment option easier for patients with SMA to access and in general learn how well nusinersen is working in adult patients with SMA overtime.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 15
• Est. completion date: June 25, 2021
• Est. primary completion date: May 14, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 60 Years

Eligibility

Inclusion Criteria:

1. Age 18 to 60 years

2. Genetic confirmation of 5q SMA documented by the homozygous deletion of both SMN1 genes on standard genetic tests for the disorder

3. SMN2 copy number of 3 or greater

4. Subjects must be able to walk thirty feet without assistance (i.e. no canes, walkers)

5. Interest in participating and the ability to meet the study requirements

6. Women of childbearing-age are required to be on birth control or abstain while participating in the research study

Exclusion Criteria:

1. Subjects with history of spinal disease that will interfere with the lumbar puncture procedure

2. Subjects with history of bacterial meningitis or encephalitis

3. Subjects with history of use of investigational drug treatment for SMA in the last six months, or plan on enrolling in any other treatment trial during the duration of this trial

4. History of treatment with gene therapy, stem cell or antisense oligonucleotide

5. Patients with co-morbid conditions that preclude travel, testing or study medications

6. Patients who are, in the investigator's opinion, mentally or legally incapacitated from providing informed consent for the study, or are otherwise unable to meet study requirements or cooperate reliably with study procedures, especially strength testing

7. Women who are pregnant or who intend to become pregnant while participating in the research study or who are breastfeeding

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Intervention

Drug:
• nusinersen
SPINRAZA (nusinersen) is FDA approved to treat spinal muscular atrophy (SMA) through intrathecal injection.

Locations

Country	Name	City	State
United States	The Ohio State University	Columbus	Ohio

Sponsors (3)

Lead Sponsor	Collaborator
Ohio State University	Biogen, Cure SMA

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Muscle strength	To evaluate the effect of nusinersen treatment on muscle strength in ambulatory SMA adults	22 months
Secondary	Change in Six Minute Walk Test	6 Minute Walk Test (6WMT)	22 months
Secondary	Change in Hammersmith Functional Motor Scale Expanded	Hammersmith Functional Motor Scale Expanded (HFMSE)	22 months
Secondary	Change in SMA Functional Rating Scale	modified SMA Functional Rating Scale(SMA-FRS)	22 months
Secondary	Change in Forced Vital Capacity	Forced Vital Capacity (FVC)	22 months
Secondary	Change in Negative Inspiratory Force	Negative Inspiratory Force (NIF)	22 months
Secondary	Change in lean muscle mass	Muscle mass measured using Dual-Energy X-Ray Absorptiometry (DXA)	22 months
Secondary	Change in Quality of Life	Quality of life will be measured using 36-Item Short Form Survey (SF-36)	22 months
Secondary	Change in Ulnar and Peroneal muscle measures	Compound Muscle Action Potential Amplitude (CMAP) will be recorded	22 months
Secondary	Change in Motor Unit Number Estimation (MUNE)	Ulnar nerve (Recording at the Abductor Digiti Minimi muscle) MUNE scores will be recorded	22 months
Secondary	Number of participants that experience Adverse Events (AEs) and Serious Adverse Events (SAEs)	Number of participants who experience adverse outcomes	22 months