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Adults With SMA Treated With Nusinersen

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ClinicalTrials.gov Identifier: NCT04591678
Recruitment Status : Active, not recruiting
First Posted : October 19, 2020
Last Update Posted : June 9, 2021
Sponsor:
Collaborators:
Biogen
Cure SMA
Information provided by (Responsible Party):
Bakri Elsheikh, Ohio State University

Brief 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.

Condition or disease Intervention/treatment
Spinal Muscular Atrophy Drug: nusinersen

Detailed 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.

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Study Type : Observational
Estimated Enrollment : 15 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Characterizing Longitudinal Outcomes in Adults With SMA Treated With Nusinersen
Actual Study Start Date : October 1, 2018
Actual Primary Completion Date : May 14, 2021
Estimated Study Completion Date : June 30, 2021


Group/Cohort Intervention/treatment
SMA nusinersen adult cohort

The nusinersen treatment will be given as standard of care. The treatment (which is NOT research, but the standard care) will be given by an injection into the cerebrospinal fluid (fluid in your spine) through a needle inserted into your lower back. Participants will receive a 12 mg (5 mL) dose during each administration/injection, which will occur on the following days: 1 (baseline), 15, 29, and 60. Following the 60 day treatment, participants will receive treatment every 4 months (6, 10, 14 etc.).

After the 60 day, 6 month, 10 month, 14 month, 18 month and 22 month treatments the study team will see each participant afterwards to collect information to evaluate your general health, function and response to the treatment for the study.

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




Primary Outcome Measures :
  1. Muscle strength [ Time Frame: 22 months ]
    To evaluate the effect of nusinersen treatment on muscle strength in ambulatory SMA adults


Secondary Outcome Measures :
  1. Change in Six Minute Walk Test [ Time Frame: 22 months ]
    6 Minute Walk Test (6WMT)

  2. Change in Hammersmith Functional Motor Scale Expanded [ Time Frame: 22 months ]
    Hammersmith Functional Motor Scale Expanded (HFMSE)

  3. Change in SMA Functional Rating Scale [ Time Frame: 22 months ]
    modified SMA Functional Rating Scale(SMA-FRS)

  4. Change in Forced Vital Capacity [ Time Frame: 22 months ]
    Forced Vital Capacity (FVC)

  5. Change in Negative Inspiratory Force [ Time Frame: 22 months ]
    Negative Inspiratory Force (NIF)

  6. Change in lean muscle mass [ Time Frame: 22 months ]
    Muscle mass measured using Dual-Energy X-Ray Absorptiometry (DXA)

  7. Change in Quality of Life [ Time Frame: 22 months ]
    Quality of life will be measured using 36-Item Short Form Survey (SF-36)

  8. Change in Ulnar and Peroneal muscle measures [ Time Frame: 22 months ]
    Compound Muscle Action Potential Amplitude (CMAP) will be recorded

  9. Change in Motor Unit Number Estimation (MUNE) [ Time Frame: 22 months ]
    Ulnar nerve (Recording at the Abductor Digiti Minimi muscle) MUNE scores will be recorded

  10. Number of participants that experience Adverse Events (AEs) and Serious Adverse Events (SAEs) [ Time Frame: 22 months ]
    Number of participants who experience adverse outcomes


Biospecimen Retention:   Samples Without DNA
blood/serum


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adults with spinal muscular atrophy (SMA) as confirmed by clinical and genetic assessments.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04591678


Locations
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United States, Ohio
The Ohio State University
Columbus, Ohio, United States, 43210
Sponsors and Collaborators
Ohio State University
Biogen
Cure SMA
Investigators
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Principal Investigator: Bakri Elsheikh, MD Ohio State University
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Responsible Party: Bakri Elsheikh, Professor of Neurology, Ohio State University
ClinicalTrials.gov Identifier: NCT04591678    
Other Study ID Numbers: 2018H0311
First Posted: October 19, 2020    Key Record Dates
Last Update Posted: June 9, 2021
Last Verified: June 2021

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: Yes
Keywords provided by Bakri Elsheikh, Ohio State University:
nusinersen
Spinraza
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases