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Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development

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ClinicalTrials.gov Identifier: NCT01736553
Recruitment Status : Completed
First Posted : November 29, 2012
Results First Posted : May 4, 2018
Last Update Posted : May 4, 2018
Sponsor:
Collaborators:
National Institute of Neurological Disorders and Stroke (NINDS)
Cure SMA
Massachusetts General Hospital
University of Iowa
Information provided by (Responsible Party):
Stephen J. Kolb, Ohio State University

Study Type: Observational
Study Design: Observational Model: Cohort;   Time Perspective: Prospective
Condition: Spinal Muscular Atrophy (SMA)

  Participant Flow

Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
12/2012 first subject enrolled, 9/2014 Enrollment Complete, 8/2015 Last Subject Visit

Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
Subject's had staggered enrollment into the study based upon when identified with SMA. Participants could have visits at 0 and 3 months of age. We tried to enroll as early as possible, but only reported the data starting at 6months. 6 months was when the official visits began.

Reporting Groups
  Description
Infants With Spinal Muscular Atrophy Infants diagnosed Spinal Muscular Atrophy
Healthy Controls Healthy control infants

Participant Flow:   Overall Study
    Infants With Spinal Muscular Atrophy   Healthy Controls
STARTED   26   27 
COMPLETED   7   23 
NOT COMPLETED   19   4 
Death                12                0 
Withdrawal by Subject                5                2 
Lost to Follow-up                2                2 



  Baseline Characteristics

Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
No text entered.

Reporting Groups
  Description
Infants With Spinal Muscular Atrophy Infants diagnosed Spinal Muscular Atrophy
Healthy Controls Healthy control infants
Total Total of all reporting groups

Baseline Measures
   Infants With Spinal Muscular Atrophy   Healthy Controls   Total 
Overall Participants Analyzed 
[Units: Participants]
 26   27   53 
Age [1] 
[Units: Weeks]
Mean (Standard Deviation)
 39  (1.5)   39  (1.4)   39  (1.45) 
[1] Gestational age at birth is reported.
Age, Customized [1] 
[Units: Participants]
Count of Participants
     
Age at Enrollment       
0-2 Months      4  15.4%      10  37.0%      14  26.4% 
2-4 Months      16  61.5%      9  33.3%      25  47.2% 
5-6 Months      6  23.1%      8  29.6%      14  26.4% 
[1] Age at Enrollment
Sex: Female, Male 
[Units: Participants]
Count of Participants
     
Female      15  57.7%      14  51.9%      29  54.7% 
Male      11  42.3%      13  48.1%      24  45.3% 
Ethnicity (NIH/OMB) 
[Units: Participants]
Count of Participants
     
Hispanic or Latino      6  23.1%      3  11.1%      9  17.0% 
Not Hispanic or Latino      20  76.9%      24  88.9%      44  83.0% 
Unknown or Not Reported      0   0.0%      0   0.0%      0   0.0% 
Race (NIH/OMB) 
[Units: Participants]
Count of Participants
     
American Indian or Alaska Native      0   0.0%      0   0.0%      0   0.0% 
Asian      0   0.0%      1   3.7%      1   1.9% 
Native Hawaiian or Other Pacific Islander      1   3.8%      0   0.0%      1   1.9% 
Black or African American      1   3.8%      1   3.7%      2   3.8% 
White      24  92.3%      21  77.8%      45  84.9% 
More than one race      0   0.0%      3  11.1%      3   5.7% 
Unknown or Not Reported      0   0.0%      1   3.7%      1   1.9% 
Region of Enrollment 
[Units: Participants]
Count of Participants
     
United States   26   27   53 
SMN2 Copy Number 
[Units: Participants]
Count of Participants
     
    0   0.0%      12  44.4%      12  22.6% 
    16  61.5%      13  48.1%      29  54.7% 
    5  19.2%      1   3.7%      6  11.3% 
    1   3.8%      0   0.0%      1   1.9% 
Unknown      4  15.4%      1   3.7%      5   9.4% 
Birth Weight 
[Units: Lbs]
Mean (Standard Deviation)
 7  (1.2)   7  (1.4)   7  (1.3) 
Birth Length 
[Units: Inches]
Mean (Standard Deviation)
 20  (1.2)   20  (1.0)   20  (1.1) 


  Outcome Measures

1.  Primary:   Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI)   [ Time Frame: Up to 24 months ]

2.  Primary:   Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND)   [ Time Frame: Up to 24 months ]

3.  Primary:   Motor Function Assessments-Alberta Infant Motor Scale (AIMS)   [ Time Frame: Up to 24 months ]

4.  Primary:   Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP)   [ Time Frame: Up to 24 months ]

5.  Primary:   Molecular Biomarkers- mRNA   [ Time Frame: Up to 24 months ]

6.  Primary:   Molecular Biomarkers- SMN Protein Levels   [ Time Frame: Up to 24 months ]

7.  Primary:   Putative Physiological Biomarkers-Weight   [ Time Frame: Up to 24 months ]

8.  Primary:   Correlation of Biomarkers With Motor Function Tests for SMA Subjects- CMAP   [ Time Frame: up to 24 months ]

9.  Primary:   Correlation of Biomarkers With Motor Function Tests for SMA Subjects- mRNA   [ Time Frame: up to 24 months ]

10.  Primary:   Correlation of Biomarkers With Motor Function Tests for SMA Subjects- SMN Protein   [ Time Frame: up to 24 months ]

11.  Primary:   Correlation of Biomarkers With Motor Function Tests for SMA Subjects- Weight   [ Time Frame: up to 24 months ]

12.  Primary:   Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- CMAP   [ Time Frame: up to 24 months ]

13.  Primary:   Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- mRNA   [ Time Frame: up to 24 months ]

14.  Primary:   Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- Weight   [ Time Frame: up to 24 months ]

15.  Secondary:   Biomarker Prediction of Risk of Death   [ Time Frame: Up to 24 months ]

16.  Secondary:   Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI) SMN Copy Number =2 Cohort   [ Time Frame: Up to 24 months ]

17.  Secondary:   Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) SMN Copy Number =2 Cohort   [ Time Frame: Up to 24 months ]

18.  Secondary:   Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP) SMN Copy Number = 2 Cohort   [ Time Frame: Up to 24 months ]

19.  Secondary:   Molecular Biomarkers- mRNA SMA Copy Number = 2 Cohort   [ Time Frame: Up to 24 months ]

20.  Secondary:   Molecular Biomarkers- SMN Protein Levels SMA Copy Number = 2   [ Time Frame: Up to 24 months ]

21.  Secondary:   Putative Physiological Biomarkers-Weight SMN Copy Number =2 Cohort   [ Time Frame: Up to 24 months ]

22.  Secondary:   Correlation of CMAP Biomarker With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort   [ Time Frame: up to 24 months ]

23.  Secondary:   Correlation of mRNA Biomarkers With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort   [ Time Frame: up to 24 months ]

24.  Secondary:   Correlation of Protein Level Biomarkers With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort   [ Time Frame: up to 24 months ]

25.  Secondary:   Correlation of Biomarkers (Weight) With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort   [ Time Frame: up to 24 months ]


  Serious Adverse Events


  Other Adverse Events


  Limitations and Caveats

Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
No text entered.


  More Information

Certain Agreements:  
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.


Results Point of Contact:  
Name/Title: Dr. Stephen Kolb
Organization: The Ohio State Unviersity Wexner Medical Center
phone: 614-366-9050
e-mail: stephen.kolb@osumc.edu


Publications:


Responsible Party: Stephen J. Kolb, Ohio State University
ClinicalTrials.gov Identifier: NCT01736553     History of Changes
Other Study ID Numbers: NN101
U01NS079163 ( U.S. NIH Grant/Contract )
First Submitted: November 19, 2012
First Posted: November 29, 2012
Results First Submitted: April 7, 2017
Results First Posted: May 4, 2018
Last Update Posted: May 4, 2018