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Spinraza in Adult Spinal Muscular Atrophy (SAS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03709784
Recruitment Status : Recruiting
First Posted : October 17, 2018
Last Update Posted : August 11, 2020
Information provided by (Responsible Party):
Washington University School of Medicine

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.

Condition or disease Intervention/treatment
Spinal Muscular Atrophy Spinal Muscular Atrophy Type II Spinal Muscular Atrophy Type 3 Other: Observational study to examine safety, tolerability, and effectiveness of SPINRAZA® prescribed as part of standard of care

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.

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Study Type : Observational
Estimated Enrollment : 73 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective, Multi-center, Observational Study of the Safety, Tolerability and Effectiveness of SPINRAZA® (Nusinersen) in Adult Patients With Spinal Muscular Atrophy
Actual Study Start Date : August 16, 2018
Estimated Primary Completion Date : January 30, 2022
Estimated Study Completion Date : January 30, 2022

Intervention Details:
  • Other: Observational study to examine safety, tolerability, and effectiveness of SPINRAZA® prescribed as part of standard of care
    This is an observational study of adult patients with SMA to examine the safety, tolerability, and effectiveness of SPINRAZA® (nusinersen) for up to 30 months.

Primary Outcome Measures :
  1. Change from baseline in the 6-Minute Walk Test (6MWT) for ambulatory SMA patients [ Time Frame: 30 months ]
    Assess effectiveness of SPINRAZA® (nusinersen) treatment on mobility and ambulation in ambulatory adult SMA patients, comparing changes in total distance walked in in six minutes from baseline until end of treatment at 30 months..

  2. Change from baseline in Revised Upper Limb Module (RULM) for weak ambulatory and non-ambulatory SMA patients [ Time Frame: 30 months ]
    Assess the effectiveness of SPINRAZA® (nusinersen) treatment on upper extremity function in ambulatory and non-ambulatory adult SMA patients, comparing change in RULM score from baseline until end of treatment at 30 months.

Biospecimen Retention:   Samples With DNA
5cc of Cerebral Spinal Fluid (CSF) is collected and typically discarded as part of the typical clinical encounter when SPINRAZA® (nusinersen) is administered. This 5cc of CSF will be collected for research purposes at each dosing visit. Blood samples, including whole blood, serum, and plasma (3 teaspoons total) will be collected within seven days of standard of care SPINRAZA® (nusinersen) administration at dose #1, 2, 4, 5, 7, 9 and 11.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects with SMA 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.

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 enrollment.
  3. Genetic documentation of 5Q SMA homozygous gene deletion, mutation, or compound heterozygote.
  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 Investigator.
  8. Revised upper limb module (RULM) score ≥ 4 (more than marginal upper extremity function/strength.
  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 ≤ 34.

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 event.
  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.

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 identifier (NCT number): NCT03709784

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Contact: Craig Zaidman, MD 314-273-2630

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United States, Arizona
Barrow Neurological Institute Recruiting
Phoenix, Arizona, United States, 85013
Contact: Jessica Duncan    602-406-1466   
Contact: Brittany Rodriguez    602-512-6655   
Principal Investigator: Shafeeq S Ladha, MD         
United States, California
University of California - Irvine Recruiting
Orange, California, United States, 92868
Contact: Vivian Li    714-509-2662   
Contact: Veronica Martin    714-456-7760   
Principal Investigator: Manisha Kak Korb, MD         
United States, District of Columbia
Georgetown University Recruiting
Washington, District of Columbia, United States, 20007
Contact: Sarai Bartlett    202-444-6941   
Principal Investigator: Joseph Choi, MD         
United States, Illinois
Northwestern University Recruiting
Chicago, Illinois, United States, 60611
Contact: Ben Joslin   
Principal Investigator: Senda Ajroud-Driss, MD         
United States, Maryland
Johns Hopkins Recruiting
Baltimore, Maryland, United States, 21287
Contact: Agnes King    443-287-6294   
Principal Investigator: Thomas Crawford, MD         
United States, Massachusetts
Massachusetts General Hospital-Harvard University Recruiting
Boston, Massachusetts, United States, 02114
Contact: Emma Rodrigues    617-724-2996   
Principal Investigator: Kathy Swoboda, MD         
United States, Michigan
Memorial Healthcare Recruiting
Owosso, Michigan, United States, 48867
Contact: Paige Goulette    989-723-1390   
Principal Investigator: Margaret Frey, DO         
United States, Missouri
Washington University School of Medicine Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Craig Zaidman, MD    314-362-6981   
Contact: Heather Wilkins, MS    314-273-2630   
United States, New York
New York University School of Medicine Recruiting
New York, New York, United States, 10003
Contact: Binu Joseph    929-455-5625   
Principal Investigator: Mary-Lynn Chu, MD         
Columbia University Recruiting
New York, New York, United States, 10032
Contact: Ajantha Nithi    212-342-0267   
Principal Investigator: Jinsy Andrews, MD         
United States, Texas
Houston Methodist Neurological Institute Recruiting
Houston, Texas, United States, 77030
Contact: Rosilyn Gborogen    713-441-5192   
Principal Investigator: Jason R Thonhoff, MD         
United States, Virginia
Children's Hospital of the King's Daughthers Recruiting
Norfolk, Virginia, United States, 23507
Contact: Terrie Conklin    757-668-9356    Terrie.Conklin@CHKD.ORG   
Principal Investigator: Crystal M Proud, MD         
Virginia Commonwealth University Recruiting
Richmond, Virginia, United States, 23298
Contact: Jodie Howell   
Principal Investigator: Nicholas Johnson, MD         
United States, Washington
University of Washington Recruiting
Seattle, Washington, United States, 98195
Contact: Kaitlyn Gill   
Contact: Laura Sissons-Ross   
Principal Investigator: Leo Wang, MD         
Canada, Quebec
Montreal Neurological Institute and Hospital Recruiting
Montréal, Quebec, Canada, H3A 2B4
Contact: Xin Dong    514-398-5744   
Principal Investigator: Angela Genge, MD, FRCPC         
Sponsors and Collaborators
Washington University School of Medicine
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Principal Investigator: Craig Zaidman, MD Washington University School of Medicine
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Responsible Party: Washington University School of Medicine Identifier: NCT03709784    
Other Study ID Numbers: 201805187
First Posted: October 17, 2018    Key Record Dates
Last Update Posted: August 11, 2020
Last Verified: August 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Product Manufactured in and Exported from the U.S.: Yes
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Spinal Muscular Atrophies of Childhood
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn