Spinraza in Adult Spinal Muscular Atrophy

Brief Title

Spinraza in Adult Spinal Muscular Atrophy

Official Title

A Prospective, Multi-center, Observational Study of the Safety, Tolerability and Effectiveness of SPINRAZA® (Nusinersen) in Adult Patients With Spinal Muscular Atrophy

Brief Summary

      This is a longitudinal, observational study of adult patients with genetically confirmed
      chromosome 5q SMA to examine the safety, tolerability, and effectiveness of SPINRAZA®
      (nusinersen) for up to 30 months.

Detailed Description

      This is a prospective, longitudinal, multi-center, observational study designed to evaluate
      the safety, tolerability, and effectiveness of SPINRAZA® (nusinersen) in ambulatory and
      non-ambulatory adult patients with SMA. Subjects with SMA II/III that are 18 years to 70
      years of age who are planning to initiate treatment with SPINRAZA® (nusinersen) as part of
      their clinical care plan will be enrolled in this study. This study does not provide
      SPINRAZA® (nusinersen) or cover costs associated with standard clinical care.These patients
      will be treated by their respective physicians according to standard clinical practice. Study
      visits, some of which including standardized assessments of strength and function, will occur
      at baseline, day 15 after treatment initiation, day 30, day 60, and then 4-month intervals
      through month 30.

Study Type


Primary Outcome

Change from baseline in the 6-Minute Walk Test (6MWT) for ambulatory SMA patients


Spinal Muscular Atrophy


Observational study to examine safety, tolerability, and effectiveness of SPINRAZA® prescribed as part of standard of care


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

August 16, 2018

Completion Date

January 1, 2024

Primary Completion Date

January 1, 2024

Eligibility Criteria

        Inclusion Criteria:

          1. Ability to understand the purpose and risks of the study and provide signed and dated
             informed consent and authorization to use protected health information (PHI) in
             accordance with national and local subject privacy regulations.

          2. Males and females with SMA type II or type III, aged 18 to 70 years at the time of

          3. Genetic documentation of 5Q SMA homozygous gene deletion, mutation, or compound

          4. Are treatment naïve for SPINRAZA® (nusinersen).

          5. Have been prescribed SPINRAZA® (nusinersen) by the treating physician as part of their
             clinical care for SMA following the FDA approved prescribing information guidelines as
             follows: dose level (12 mg), dosing schedule (3 loading doses administered at 14-day
             intervals, and the fourth loading dose administered 30 days after the third dose and
             subsequent maintenance doses administered every 4 months) and safety lab monitoring
             (CBC, PT, INR, PTT, UA) done prior to each dose administration.

          6. Believed to be able to complete all study procedures, measurements and visits.

          7. Estimated life expectancy at least 30 months from first dosing, in the opinion of the

          8. Revised upper limb module (RULM) score ≥ 4 (more than marginal upper extremity

          9. Must meet either Group 1 or Group 2 criteria.

        For Group 1 subjects:

          1. May be ambulatory or non-ambulatory (defined as being wheelchair reliant at least 75%
             of time and unable to walk at least 10 meters without assistance).

          2. RULM score of 4-34, inclusive.

        For Group 2 subjects:

          1. Ability to walk at least 10 meters without assistance (i.e., four point walking aid).

          2. Be free of major orthopedic deformities that limit ambulation.

          3. An ambulatory subject can qualify for both Group 1 and Group 2 if the RULM score is ≤

        Exclusion Criteria:

          1. Revised upper limb score ≤ 3.

          2. Respiratory insufficiency, defined by the medical necessity for invasive or
             noninvasive ventilation for >16 hours during a 24-hour period, at screening.

          3. Hospitalization for major medical event including: surgery (i.e., scoliosis surgery,
             other surgery), cardiac event, pulmonary event, or other major medical problem within
             2 months of screening or planned major surgical procedure likely to impact the
             clinical assessments during the duration of the study. Outpatient surgical procedure
             (i.e., placement of feeding tube) is not considered an exclusionary major medical

          4. Presence of a symptomatic severe active infection or illness during the screening
             period that is likely to impact the performance on the clinical assessments.

          5. Prior exposure to SPINRAZA® (nusinersen).

          6. Prior disorder, injury (e.g., upper or lower limb fracture) or surgical procedure
             which impacts the subject's ability to perform any of the outcome measure testing
             required in the protocol and from which the subject has not fully recovered or
             achieved a stable baseline.

          7. Treatment with an investigational drug (e.g., oral albuterol/salbutamol, riluzole,
             carnitine, creatine, sodium phenylbutyrate, etc.), biological agent, or device within
             1-month of Screening or 5 half-lives of study agent, whichever is longer. Patients
             using intrathecal drug delivery devices, including investigational devices with an
             active IDE designation in the United States, may be eligible but require Study PI
             approval prior to enrollment.

          8. Any history of exposure to gene therapy, antisense oligonucleotide therapy, or cell
             transplantation that was intended for the treatment of SMA.

          9. Ongoing medical condition that according to the Clinical Center Investigator would
             interfere with the conduct and assessments of the study. Examples are medical
             disability (e.g., wasting or cachexia, severe anemia, etc.) that would interfere with
             the assessment of safety or would compromise the ability of the subject to undergo
             study procedures.




18 Years - 70 Years

Accepts Healthy Volunteers



Craig Zaidman, MD, , 

Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Washington University School of Medicine

Study Sponsor

Craig Zaidman, MD, Principal Investigator, Washington University School of Medicine

Verification Date

July 2021