Trial Outcomes & Findings for Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development (NCT NCT01736553)
NCT ID: NCT01736553
Last Updated: 2018-05-04
Results Overview
Describe \& compare the distribution of motor function assessments over the first two years of life in SMA vs. healthy control infants. The TIMPSI is used to assess the postural and selective control of movement typically used by infants younger than 5 months. The TIMPSI scores were related to an infant's ability to reach. The TIMPSI is a 29-item evaluation that contains 3 item sets: a Screening set, an Easy set, and a Hard set. The Screening set consists of 11 items from the TIMP, each with a 5- to 7-point rating scale; the Easy set has 6 items with 5- or 6-point rating scales and 4 dichotomously scored items; the Hard set has 8 items, 3 with 5-point rating scales and 5 items that are scored dichotomously. The Total score is derived from all subset scores and is the sum of those subset scores. The final score could range from 0 to 99 points. The higher the score the better the functional ability of the participant. Linear mixed effects models were used for analyses.
COMPLETED
53 participants
Up to 24 months
2018-05-04
Participant Flow
12/2012 first subject enrolled, 9/2014 Enrollment Complete, 8/2015 Last Subject Visit
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.
Participant milestones
| Measure |
Infants With Spinal Muscular Atrophy
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
Healthy control infants
|
|---|---|---|
|
Overall Study
STARTED
|
26
|
27
|
|
Overall Study
COMPLETED
|
7
|
23
|
|
Overall Study
NOT COMPLETED
|
19
|
4
|
Reasons for withdrawal
| Measure |
Infants With Spinal Muscular Atrophy
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
Healthy control infants
|
|---|---|---|
|
Overall Study
Death
|
12
|
0
|
|
Overall Study
Withdrawal by Subject
|
5
|
2
|
|
Overall Study
Lost to Follow-up
|
2
|
2
|
Baseline Characteristics
Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development
Baseline characteristics by cohort
| Measure |
Infants With Spinal Muscular Atrophy
n=26 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=27 Participants
Healthy control infants
|
Total
n=53 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
6 Participants
n=5 Participants
|
3 Participants
n=7 Participants
|
9 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
20 Participants
n=5 Participants
|
24 Participants
n=7 Participants
|
44 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Asian
|
0 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
1 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Age, Continuous
|
39 Weeks
STANDARD_DEVIATION 1.5 • n=5 Participants
|
39 Weeks
STANDARD_DEVIATION 1.4 • n=7 Participants
|
39 Weeks
STANDARD_DEVIATION 1.45 • n=5 Participants
|
|
Age, Customized
Age at Enrollment · 0-2 Months
|
4 Participants
n=5 Participants
|
10 Participants
n=7 Participants
|
14 Participants
n=5 Participants
|
|
Age, Customized
Age at Enrollment · 2-4 Months
|
16 Participants
n=5 Participants
|
9 Participants
n=7 Participants
|
25 Participants
n=5 Participants
|
|
Age, Customized
Age at Enrollment · 5-6 Months
|
6 Participants
n=5 Participants
|
8 Participants
n=7 Participants
|
14 Participants
n=5 Participants
|
|
Sex: Female, Male
Female
|
15 Participants
n=5 Participants
|
14 Participants
n=7 Participants
|
29 Participants
n=5 Participants
|
|
Sex: Female, Male
Male
|
11 Participants
n=5 Participants
|
13 Participants
n=7 Participants
|
24 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
1 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
1 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Black or African American
|
1 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
2 Participants
n=5 Participants
|
|
Race (NIH/OMB)
White
|
24 Participants
n=5 Participants
|
21 Participants
n=7 Participants
|
45 Participants
n=5 Participants
|
|
Race (NIH/OMB)
More than one race
|
0 Participants
n=5 Participants
|
3 Participants
n=7 Participants
|
3 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
1 Participants
n=5 Participants
|
|
Region of Enrollment
United States
|
26 Participants
n=5 Participants
|
27 Participants
n=7 Participants
|
53 Participants
n=5 Participants
|
|
SMN2 Copy Number
1
|
0 Participants
n=5 Participants
|
12 Participants
n=7 Participants
|
12 Participants
n=5 Participants
|
|
SMN2 Copy Number
2
|
16 Participants
n=5 Participants
|
13 Participants
n=7 Participants
|
29 Participants
n=5 Participants
|
|
SMN2 Copy Number
3
|
5 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
6 Participants
n=5 Participants
|
|
SMN2 Copy Number
4
|
1 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
1 Participants
n=5 Participants
|
|
SMN2 Copy Number
Unknown
|
4 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
5 Participants
n=5 Participants
|
|
Birth Weight
|
7 lbs
STANDARD_DEVIATION 1.2 • n=5 Participants
|
7 lbs
STANDARD_DEVIATION 1.4 • n=7 Participants
|
7 lbs
STANDARD_DEVIATION 1.3 • n=5 Participants
|
|
Birth Length
|
20 inches
STANDARD_DEVIATION 1.2 • n=5 Participants
|
20 inches
STANDARD_DEVIATION 1.0 • n=7 Participants
|
20 inches
STANDARD_DEVIATION 1.1 • n=5 Participants
|
PRIMARY outcome
Timeframe: Up to 24 monthsPopulation: The overall number of participants analyzed (19 and 26) differs from the total enrollment in each cohort reported in the participant flow (26 and 27, respectively) because of the staggered enrollment and significant mortality.
Describe \& compare the distribution of motor function assessments over the first two years of life in SMA vs. healthy control infants. The TIMPSI is used to assess the postural and selective control of movement typically used by infants younger than 5 months. The TIMPSI scores were related to an infant's ability to reach. The TIMPSI is a 29-item evaluation that contains 3 item sets: a Screening set, an Easy set, and a Hard set. The Screening set consists of 11 items from the TIMP, each with a 5- to 7-point rating scale; the Easy set has 6 items with 5- or 6-point rating scales and 4 dichotomously scored items; the Hard set has 8 items, 3 with 5-point rating scales and 5 items that are scored dichotomously. The Total score is derived from all subset scores and is the sum of those subset scores. The final score could range from 0 to 99 points. The higher the score the better the functional ability of the participant. Linear mixed effects models were used for analyses.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=19 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI)
6 month
|
36.06 scores on a scale
Interval 27.2 to 44.91
|
88.47 scores on a scale
Interval 80.52 to 96.43
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI)
9 month
|
40.54 scores on a scale
Interval 29.91 to 51.18
|
89.44 scores on a scale
Interval 81.47 to 97.41
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI)
12 month
|
32.03 scores on a scale
Interval 21.39 to 42.68
|
85.39 scores on a scale
Interval 77.41 to 93.36
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI)
18 month
|
26.35 scores on a scale
Interval 10.87 to 41.83
|
87.35 scores on a scale
Interval 79.12 to 95.57
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI)
24 month
|
23.14 scores on a scale
Interval 10.04 to 36.23
|
88.65 scores on a scale
Interval 80.19 to 97.11
|
PRIMARY outcome
Timeframe: Up to 24 monthsPopulation: Patients enrolled in the trial from birth. The overall number of participants analyzed (14 and 0) differs from the total enrollment in each cohort reported in the participant flow (26 and 27, respectively) because of the staggered enrollment, significant mortality, and protocol design of who was eligible for this second motor measure.
The TIMPSI motor function testing was done during all of the study visits knowing that the healthy controls would eventually ceiling out. The study design allowed for secondary motor function tests based on the score of the TIMPSI. If infants scored a 41 or above on the TIMPSI they would be tested with the AIMS. If they were below they were tested with the CHOP-INTEND. The CHOP-INTEND is a reliable and validated, comprehensive assessment of the postural and selective control of movement needed by infants. It is a clinician-rated questionnaire developed to assess motor skill in spinal muscular atrophy type I. The 16 items are scored from 0 to 4. The global score ranges from 0 to 64, a higher score indicating better motor skills.(Finkel, McDermott, 2014). All healthy controls based upon scores at 6 months moved on to the AIMS test, therefore no healthy controls completed the CHOP-INTEND. Linear mixed effects models were used for analyses of Motor function outcome data.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
Healthy control infants
|
|---|---|---|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND)
6 month
|
18.38 scores on a scale
Interval 15.02 to 21.75
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND)
9 month
|
13.18 scores on a scale
Interval 9.24 to 17.12
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND)
12 month
|
9.74 scores on a scale
Interval 5.01 to 14.46
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND)
18 month
|
7.52 scores on a scale
Interval 2.89 to 12.16
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND)
24 month
|
7.01 scores on a scale
Interval 6.82 to 7.19
|
—
|
PRIMARY outcome
Timeframe: Up to 24 monthsPopulation: Patients enrolled in the trial from birth to 6 months of age. The overall number of participants analyzed (5 and 26) differs from the total enrollment in each cohort reported in the participant flow (26 and 27) because of the staggered enrollment, significant mortality and protocol design of who was eligible for this second motor measure.
Linear mixed effects models were used for analyses. The reason that the number of infants differ from those in participant flow is based upon the protocol. The selection of which secondary test to perform depended upon the score of the TIMPSI that was performed. TIMPSI \<41, do CHOP-NTEND. TIMPSI \> 41, do AIMS. The AIMS incorporates the neuromaturational concept and the dynamical systems theory and is used to measure gross motor maturation of infants from birth through the age of independent walking (Piper, Pinnell et al. 1992, Piper, Darrah et al 1994). In the AIMS, the impact of neurological components on motor development is reflected by a sequence of motor skills, which are used as the basis of assessment. The AIMS consists of 58 items, including 4 positions: prone (21 items), supine (9 items), sitting (12 items) \& standing(16 items). The highest score available is 58. The higher the score the better the functional ability of the participant.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=5 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Motor Function Assessments-Alberta Infant Motor Scale (AIMS)
6 month
|
11.74 Scores on a scale
Interval 3.91 to 19.58
|
19.29 Scores on a scale
Interval 16.4 to 22.19
|
|
Motor Function Assessments-Alberta Infant Motor Scale (AIMS)
9 month
|
15.58 Scores on a scale
Interval 2.51 to 28.64
|
34.10 Scores on a scale
Interval 29.05 to 39.14
|
|
Motor Function Assessments-Alberta Infant Motor Scale (AIMS)
12 month
|
21.60 Scores on a scale
Interval 6.66 to 36.53
|
37.10 Scores on a scale
Interval 30.52 to 43.68
|
|
Motor Function Assessments-Alberta Infant Motor Scale (AIMS)
18 month
|
19.18 Scores on a scale
Interval 2.03 to 36.32
|
38.62 Scores on a scale
Interval 31.3 to 45.93
|
|
Motor Function Assessments-Alberta Infant Motor Scale (AIMS)
24 month
|
14.71 Scores on a scale
Interval 2.17 to 27.25
|
37.76 Scores on a scale
Interval 29.81 to 45.71
|
PRIMARY outcome
Timeframe: Up to 24 monthsPopulation: Patients enrolled in the trial from birth to 6 months. The overall number of participants analyzed (18/ and 26) differs from the total enrollment in the participant flow (26 and 27) because of the staggered enrollment, significant mortality and tolerance of procedure. Therefore not all infants enrolled were included in all longitudinal analyses.
Describe and compare the distribution of the putative physiological and molecular biomarkers over the first two years of life in SMA vs. healthy control infants. Maximum ulnar CMAP amplitude and area will be obtained by recording from the abductor digitiminimi muscle following ulnar nerve stimulation at the wrist. All electrophysiologic testing will be performed by certified electromyographers experienced in the assessment of pediatric patients. Maximum values for both negative peak (NP) amplitude and NP area will be obtained. No medications will be used. This test is done routinely in this population. Pediatric electrodes and each site's standard electromyograph devices will be utilized. The test, while not considered to be painful, may cause some discomfort similar to a static electric shock. Infants may whimper or cry due to the surprise of the shock. Each shock lasts approximately 0.1 millisecond. The testing duration is expected to be approximately 30 seconds.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=18 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP)
6 month
|
1.07 mV
Interval 0.17 to 1.96
|
6.00 mV
Interval 5.22 to 6.78
|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP)
12 month
|
0.51 mV
Interval -0.56 to 1.59
|
5.95 mV
Interval 5.16 to 6.75
|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP)
18 month
|
0.49 mV
Interval -0.98 to 1.95
|
6.55 mV
Interval 5.75 to 7.36
|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP)
24 month
|
-0.02 mV
Interval -1.46 to 1.42
|
6.74 mV
Interval 5.91 to 7.58
|
PRIMARY outcome
Timeframe: Up to 24 monthsPopulation: Patients enrolled in the trial from birth to 6 months. The overall number of participants analyzed (19 and 22) differs from the total enrollment in the participant flow (26 and 27) because of the staggered enrollment, significant mortality, \& insufficient sample. Therefore not all infants enrolled were included in all longitudinal analyses.
Describe and compare the distribution of the putative physiological and molecular biomarkers over the first two years of life in SMA vs. healthy control infants. Results were measured in survival motor neurons (SMN), hypoxanthine phosphoribosyltransferase (HPRT) Ratio.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=19 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=22 Participants
Healthy control infants
|
|---|---|---|
|
Molecular Biomarkers- mRNA
6 month
|
0.55 SMN/HPRT Ratio
Interval 0.39 to 0.71
|
1.29 SMN/HPRT Ratio
Interval 1.14 to 1.44
|
|
Molecular Biomarkers- mRNA
12 month
|
0.47 SMN/HPRT Ratio
Interval 0.26 to 0.69
|
1.21 SMN/HPRT Ratio
Interval 1.06 to 1.37
|
|
Molecular Biomarkers- mRNA
18 month
|
0.50 SMN/HPRT Ratio
Interval 0.19 to 0.8
|
1.11 SMN/HPRT Ratio
Interval 0.96 to 1.26
|
|
Molecular Biomarkers- mRNA
24 month
|
0.66 SMN/HPRT Ratio
Interval 0.35 to 0.97
|
1.20 SMN/HPRT Ratio
Interval 1.03 to 1.37
|
PRIMARY outcome
Timeframe: Up to 24 monthsPopulation: Patients enrolled in the trial from birth to 6 months. The overall number of participants analyzed (15 and 18) differs from the total enrollment reported in the participant flow (26 and 27) because of the staggered enrollment, significant mortality, insufficient sample. Therefore not all infants enrolled were included in all longitudinal analyses.
Describe and compare the distribution of the putative physiological and molecular biomarkers over the first two years of life in SMA vs. healthy control infants.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=15 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=18 Participants
Healthy control infants
|
|---|---|---|
|
Molecular Biomarkers- SMN Protein Levels
6 month
|
4798.85 pg/10^7 PBMC
Interval 2799.07 to 6798.63
|
8325.96 pg/10^7 PBMC
Interval 6435.08 to 10217.0
|
|
Molecular Biomarkers- SMN Protein Levels
12 month
|
6719.63 pg/10^7 PBMC
Interval 4404.92 to 9034.3
|
10247 pg/10^7 PBMC
Interval 8228.29 to 12265.0
|
|
Molecular Biomarkers- SMN Protein Levels
18 month
|
3108.79 pg/10^7 PBMC
Interval 476.39 to 5741.19
|
6635.90 pg/10^7 PBMC
Interval 4401.46 to 8870.34
|
|
Molecular Biomarkers- SMN Protein Levels
24 month
|
8502.48 pg/10^7 PBMC
Interval 5562.01 to 11443.0
|
12030 pg/10^7 PBMC
Interval 9552.13 to 14507.0
|
PRIMARY outcome
Timeframe: Up to 24 monthsPopulation: Subjects enrolled from birth to 6 months. The overall number of participants analyzed (19 and 26) differs from the total enrollment reported in the participant flow (26 and 27) because of the staggered enrollment \& significant mortality. Therefore not all infants enrolled were included in all longitudinal analyses.
Describe and compare the distribution of the putative physiological and molecular biomarkers over the first two years of life in SMA vs. healthy control infants.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=19 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Putative Physiological Biomarkers-Weight
6 month
|
6.88 kg
Interval 6.46 to 7.31
|
7.83 kg
Interval 7.43 to 8.23
|
|
Putative Physiological Biomarkers-Weight
9 month
|
7.92 kg
Interval 7.34 to 8.49
|
8.94 kg
Interval 8.51 to 9.37
|
|
Putative Physiological Biomarkers-Weight
12 month
|
8.71 kg
Interval 8.1 to 9.33
|
9.88 kg
Interval 9.41 to 10.36
|
|
Putative Physiological Biomarkers-Weight
18 month
|
9.95 kg
Interval 9.17 to 10.72
|
11.40 kg
Interval 10.95 to 11.85
|
|
Putative Physiological Biomarkers-Weight
24 month
|
10.47 kg
Interval 9.71 to 11.23
|
12.74 kg
Interval 12.25 to 13.23
|
PRIMARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants analyzed (19 and 14) differs from the total enrollment reported in the participant flow (26) because of the staggered enrollment and significant mortality. Therefore not all infants enrolled were included in all longitudinal analyses.
In these analyses motor function score was the outcome measure. Correlation was defined as the estimated mean increase per a one unit increase in the biomarker under consideration. A linear mixed effects model was used to estimate the correlation between the biomarker and motor function score. Separate models were used for the TIMPSI and CHOP-INTEND. In the CHOP-INTEND analyses, correlations were not estimable for the 18 and 24 month visits.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=19 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=14 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- CMAP
6 month
|
9.36 mV/scale unit
Interval 5.59 to 13.13
|
17.25 mV/scale unit
Interval -2.26 to 36.77
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- CMAP
12 month
|
22.88 mV/scale unit
Interval 16.24 to 29.52
|
21.53 mV/scale unit
Interval -34.94 to 78.0
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- CMAP
18 month
|
17.48 mV/scale unit
Interval 9.07 to 25.89
|
—
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- CMAP
24 month
|
18.57 mV/scale unit
Interval 10.03 to 27.11
|
—
|
PRIMARY outcome
Timeframe: up to 24 monthsIn these analyses motor function score was the outcome measure. Correlation was defined as the estimated mean increase per a one unit increase in the biomarker under consideration. A linear mixed effects model was used to estimate the correlation between the biomarker and motor function score. Separate models were used for the TIMPSI and CHOP-INTEND.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=26 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- mRNA
6 month
|
53.60 (SMN/HPRT ratio)/scale unit
Interval -0.04 to 107.24
|
0.11 (SMN/HPRT ratio)/scale unit
Interval -15.81 to 16.03
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- mRNA
12 month
|
125.52 (SMN/HPRT ratio)/scale unit
Interval 40.81 to 210.22
|
0.11 (SMN/HPRT ratio)/scale unit
Interval -15.81 to 16.03
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- mRNA
18 month
|
181.22 (SMN/HPRT ratio)/scale unit
Interval 3.65 to 358.78
|
0.11 (SMN/HPRT ratio)/scale unit
Interval -15.81 to 16.03
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- mRNA
24 month
|
46.43 (SMN/HPRT ratio)/scale unit
Interval -12.65 to 105.51
|
0.11 (SMN/HPRT ratio)/scale unit
Interval -15.81 to 16.03
|
PRIMARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants analyzed (14 and 19) differs from the total enrollment reported in the participant flow (26) because of the staggered enrollment and significant mortality. Therefore not all infants enrolled were included in all longitudinal analyses.
In these analyses motor function score was the outcome measure. Correlation was defined as the estimated mean increase per a one unit increase in the biomarker under consideration. A linear mixed effects model was used to estimate the correlation between the biomarker and motor function score. Separate models were used for the TIMPSI and CHOP-INTEND. In the CHOP-INTEND analyses, the correlation at the 24 month visit was not estimable.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=19 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- SMN Protein
6 month
|
-0.0011 (pg/10^7 PBMC)/scale unit
Interval -0.0053 to 0.0032
|
-0.0003 (pg/10^7 PBMC)/scale unit
Interval -0.0033 to 0.0027
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- SMN Protein
12 month
|
0.00066 (pg/10^7 PBMC)/scale unit
Interval -0.0057 to 0.0071
|
-0.0003 (pg/10^7 PBMC)/scale unit
Interval -0.00033 to 0.0027
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- SMN Protein
18 month
|
0.026 (pg/10^7 PBMC)/scale unit
Interval -0.0093 to 0.061
|
-0.0003 (pg/10^7 PBMC)/scale unit
Interval -0.00033 to 0.0027
|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- SMN Protein
24 month
|
—
|
-0.0003 (pg/10^7 PBMC)/scale unit
Interval -0.00033 to 0.0027
|
PRIMARY outcome
Timeframe: up to 24 monthsIn these analyses motor function score was the outcome measure. Correlation was defined as the estimated mean increase per a one unit increase in the biomarker under consideration. A linear mixed effects model was used to estimate the correlation between the biomarker and motor function score. Separate models were used for the TIMPSI and CHOP-INTEND.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=26 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers With Motor Function Tests for SMA Subjects- Weight
|
2.27 kg/scale unit
Interval -3.34 to 7.87
|
-2.39 kg/scale unit
Interval -4.13 to -0.65
|
PRIMARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants analyzed (26 and 26) differs from the total enrollment reported in the participant flow at each visit (27) because of the staggered enrollment, significant mortality and tolerance of testing.
In these analyses motor function score was the outcome measure. Correlation was defined as the estimated mean increase per a one unit increase in the biomarker under consideration. A linear mixed effects model was used to estimate the correlation between the biomarker and motor function score. Separate models were used for the TIMPSI and AIMS.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=26 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- CMAP
6 month
|
-0.23 mV/scale unit
Interval -2.88 to 2.43
|
0.21 mV/scale unit
Interval -0.63 to 1.05
|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- CMAP
12 month
|
-4.52 mV/scale unit
Interval -7.53 to -1.51
|
0.21 mV/scale unit
Interval -0.63 to 1.05
|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- CMAP
18 month
|
-0.58 mV/scale unit
Interval -3.07 to 1.92
|
0.21 mV/scale unit
Interval -0.63 to 1.05
|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- CMAP
24 month
|
1.14 mV/scale unit
Interval -2.05 to 4.34
|
0.21 mV/scale unit
Interval -0.63 to 1.05
|
PRIMARY outcome
Timeframe: up to 24 monthsPopulation: Labs were not obtainable for all subjects. The overall number of participants analyzed (26 and 26) differs from the total enrollment reported in the participant flow (27) because of the staggered enrollment, significant mortality and protocol design.
In these analyses motor function score was the outcome measure. Correlation was defined as the estimated mean increase per a one unit increase in the biomarker under consideration. A linear mixed effects model was used to estimate the correlation between the biomarker and motor function score. Separate models were used for the TIMPSI and AIMS.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=26 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- mRNA
|
9.52 (SMN/HPRT Ratio)/scale unit
Interval 3.18 to 15.86
|
-2.46 (SMN/HPRT Ratio)/scale unit
Interval -6.2 to 1.28
|
PRIMARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants analyzed (26 and 26) differs from the total enrollment reported in the participant flow (27) because of the staggered enrollment and significant mortality.
In these analyses motor function score was the outcome measure. Correlation was defined as the estimated mean increase per a one unit increase in the biomarker under consideration. A linear mixed effects model was used to estimate the correlation between the biomarker and motor function score. Separate models were used for the TIMPSI and AIMS.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=26 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- Weight
24 month
|
0.60 kg/scale unit
Interval -1.71 to 2.9
|
3.53 kg/scale unit
Interval -0.76 to 7.82
|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- Weight
6 month
|
0.60 kg/scale unit
Interval -1.71 to 2.9
|
1.48 kg/scale unit
Interval -0.68 to 3.66
|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- Weight
9 month
|
0.60 kg/scale unit
Interval -1.71 to 2.9
|
-0.72 kg/scale unit
Interval -4.06 to 2.62
|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- Weight
12 month
|
0.60 kg/scale unit
Interval -1.71 to 2.9
|
1.14 kg/scale unit
Interval -2.12 to 4.39
|
|
Correlation of Biomarkers With Motor Function Tests for Healthy Control Subjects- Weight
18 month
|
0.60 kg/scale unit
Interval -1.71 to 2.9
|
-0.46 kg/scale unit
Interval -4.39 to 3.47
|
SECONDARY outcome
Timeframe: Up to 24 monthsExamine whether any of the motor function assessments, putative physiological, or molecular biomarkers predict risk of death in the SMA cohort. Proportional hazards regression models used to determine if motor function scores, mRNA, and protein levels predict death in SMA subjects. Considered each predictor separately modeled as a time-varying covariate (predictor values were allowed to vary as time to death was assessed).
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=26 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
Healthy control infants
|
|---|---|---|
|
Biomarker Prediction of Risk of Death
TIMPSI (per 10 unit increase)
|
0.72 Hazard Ratio
Interval 0.5 to 1.04
|
—
|
|
Biomarker Prediction of Risk of Death
CHOP-INTEND (per 10 unit increase)
|
0.94 Hazard Ratio
Interval 0.59 to 1.51
|
—
|
|
Biomarker Prediction of Risk of Death
CMAP Peak Amplitude (per 1 unit increase)
|
0.37 Hazard Ratio
Interval 0.1 to 1.29
|
—
|
|
Biomarker Prediction of Risk of Death
mRNA (per 1 unit increase)
|
0.28 Hazard Ratio
Interval 0.0009 to 8.82
|
—
|
|
Biomarker Prediction of Risk of Death
Protein Level (per 1000 unit increase)
|
1.27 Hazard Ratio
Interval 0.98 to 1.65
|
—
|
|
Biomarker Prediction of Risk of Death
Weight (per 10kg increase)
|
0.02 Hazard Ratio
Interval 0.0004 to 1.28
|
—
|
SECONDARY outcome
Timeframe: Up to 24 monthsPopulation: The overall number of participants analyzed (14 and 26) differs from the total enrollment reported in the participant flow (26 and 27 respectively) because of the staggered enrollment, subset of infants with SMN2 \& significant mortality.
Describe and compare the distribution of motor function assessments over the first two years of life in SMA subjects with SMN copy number = 2 versus healthy control infants. The TIMPSI is used to assess the postural and selective control of movement typically used by infants younger than 5 months. The TIMPSI scores were related to an infant's ability to reach. The TIMPSI is a 29-item evaluation that contains 3 item sets: a Screening set, an Easy set, and a Hard set. The Screening set consists of 11 items from the TIMP, each with a 5- to 7-point rating scale; the Easy set has 6 items with 5- or 6-point rating scales and 4 dichotomously scored items; the Hard set has 8 items, 3 with 5-point rating scales and 5 items that are scored dichotomously. The Total score is derived from all subset scores and is the sum of those subset scores. The final score could range from 0 to 99 points. The higher the score the better the functional ability of the participant.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI) SMN Copy Number =2 Cohort
6 month
|
24.53 Scores on a scale
Interval 17.89 to 31.17
|
88.25 Scores on a scale
Interval 83.34 to 93.15
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI) SMN Copy Number =2 Cohort
9 month
|
20.08 Scores on a scale
Interval 10.11 to 30.05
|
89.20 Scores on a scale
Interval 84.29 to 94.11
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI) SMN Copy Number =2 Cohort
12 month
|
13.82 Scores on a scale
Interval 4.4 to 23.24
|
85.15 Scores on a scale
Interval 80.24 to 90.06
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI) SMN Copy Number =2 Cohort
18 month
|
8.82 Scores on a scale
Interval -8.24 to 25.89
|
87.36 Scores on a scale
Interval 82.16 to 92.56
|
|
Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI) SMN Copy Number =2 Cohort
24 month
|
7.51 Scores on a scale
Interval -6.83 to 22.03
|
88.92 Scores on a scale
Interval 83.49 to 94.36
|
SECONDARY outcome
Timeframe: Up to 24 monthsPopulation: The overall number of participants analyzed (14) differs from the total enrollment reported in the participant flow (26) because of the staggered enrollment, subset of infants with SMN2 , and significant mortality. Healthy controls did not complete this visit due to the protocol.
Describe and compare the distribution of motor function assessments over the first two years of life in SMA subjects with SMN copy number = 2 versus healthy control infants. The CHOP-INTEND is a reliable and validated, comprehensive assessment of the postural and selective control of movement needed by infants. It is a clinician-rated questionnaire developed to assess motor skill in spinal muscular atrophy type I. The 16 items are scored from 0 to 4. The global score ranges from 0 to 64, a higher score indicating better motor skills.(Finkel, McDermott, 2014).
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
Healthy control infants
|
|---|---|---|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) SMN Copy Number =2 Cohort
18 month
|
7.33 Scores on a scale
Interval 2.39 to 12.26
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) SMN Copy Number =2 Cohort
24 month
|
7.00 Scores on a scale
Interval 6.72 to 7.28
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) SMN Copy Number =2 Cohort
6 month
|
18.05 Scores on a scale
Interval 14.86 to 21.25
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) SMN Copy Number =2 Cohort
9 month
|
12.87 Scores on a scale
Interval 8.93 to 16.81
|
—
|
|
Motor Function Assessments- The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) SMN Copy Number =2 Cohort
12 month
|
9.38 Scores on a scale
Interval 4.61 to 14.12
|
—
|
SECONDARY outcome
Timeframe: Up to 24 monthsPopulation: The overall number of participants analyzed (13 and 26) differs from the total enrollment in the participant flow (26 and 27) because of the staggered enrollment, subset of patients with SMA, significant mortality, and tolerance of procedure.
Describe and compare the distribution of the putative physiological and molecular biomarkers over the first two years of life in SMA2 vs. healthy control infants. Maximum ulnar CMAP amplitude and area will be obtained by recording from the abductor digitiminimi muscle following ulnar nerve stimulation at the wrist. All electrophysiologic testing will be performed by certified electromyographers experienced in the assessment of pediatric patients. Maximum values for both negative peak (NP) amplitude and NP area will be obtained. No medications will be used. This test is done routinely in this population. Pediatric electrodes and each site's standard electromyograph devices will be utilized. The test, while not considered to be painful, may cause some discomfort similar to a static electric shock. Infants may whimper or cry due to the surprise of the shock. Each shock lasts approximately 0.1 millisecond. The testing duration is expected to be approximately 30 seconds.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=13 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP) SMN Copy Number = 2 Cohort
6 month
|
0.36 mV
Interval -0.04 to 1.84
|
5.95 mV
Interval 5.3 to 6.6
|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP) SMN Copy Number = 2 Cohort
12 month
|
0.33 mV
Interval -0.54 to 1.19
|
5.92 mV
Interval 5.25 to 6.58
|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP) SMN Copy Number = 2 Cohort
18 month
|
0.90 mV
Interval -0.04 to 1.84
|
6.49 mV
Interval 5.8 to 7.19
|
|
Putative Physiological Biomarker- Compound Motor Action Potential Testing (CMAP) SMN Copy Number = 2 Cohort
24 month
|
—
|
6.63 mV
Interval 5.92 to 7.36
|
SECONDARY outcome
Timeframe: Up to 24 monthsPopulation: The overall number of participants analyzed (14 and 22) differs from the total enrollment in the participant flow (26 and 27) because of the staggered enrollment, subset of patients with SMA, significant mortality, and insufficient sample.
Describe and compare the distribution of the putative physiological and molecular biomarkers over the first two years of life in SMA vs. healthy control infants.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=22 Participants
Healthy control infants
|
|---|---|---|
|
Molecular Biomarkers- mRNA SMA Copy Number = 2 Cohort
6 month
|
0.46 SMN/HPRT Ratio
Interval 0.31 to 0.62
|
1.29 SMN/HPRT Ratio
Interval 1.16 to 1.43
|
|
Molecular Biomarkers- mRNA SMA Copy Number = 2 Cohort
12 month
|
0.38 SMN/HPRT Ratio
Interval 0.31 to 0.45
|
1.21 SMN/HPRT Ratio
Interval 1.07 to 1.35
|
|
Molecular Biomarkers- mRNA SMA Copy Number = 2 Cohort
18 month
|
0.29 SMN/HPRT Ratio
Interval 0.08 to 0.49
|
1.12 SMN/HPRT Ratio
Interval 0.97 to 1.26
|
|
Molecular Biomarkers- mRNA SMA Copy Number = 2 Cohort
24 month
|
0.40 SMN/HPRT Ratio
Interval 0.19 to 0.61
|
1.23 SMN/HPRT Ratio
Interval 1.07 to 1.39
|
SECONDARY outcome
Timeframe: Up to 24 monthsPopulation: Patients enrolled in the trial at birth. The overall number of participants analyzed (10 and 18) differs from the total enrollment reported in the participant flow (26 and 27) because of the staggered enrollment, significant mortality, subset of SMA subjects, and insufficient sample.
Describe and compare the distribution of the putative physiological and molecular biomarkers over the first two years of life in SMA2 vs. healthy control infants.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=10 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=18 Participants
Healthy control infants
|
|---|---|---|
|
Molecular Biomarkers- SMN Protein Levels SMA Copy Number = 2
24 month
|
6912.88 pg/10^7 PBMC
Interval 3225.48 to 10600.0
|
11727 pg/10^7 PBMC
Interval 8930.09 to 14523.0
|
|
Molecular Biomarkers- SMN Protein Levels SMA Copy Number = 2
6 month
|
3785.02 pg/10^7 PBMC
Interval 1245.92 to 6324.12
|
8598.73 pg/10^7 PBMC
Interval 6472.81 to 10725.0
|
|
Molecular Biomarkers- SMN Protein Levels SMA Copy Number = 2
12 month
|
5800.63 pg/10^7 PBMC
Interval 2828.39 to 8772.87
|
10614 pg/10^7 PBMC
Interval 8341.73 to 12887.0
|
|
Molecular Biomarkers- SMN Protein Levels SMA Copy Number = 2
18 month
|
1612.35 pg/10^7 PBMC
Interval -1753.19 to 4977.9
|
6426.06 pg/10^7 PBMC
Interval 3892.03 to 8960.09
|
SECONDARY outcome
Timeframe: Up to 24 monthsPopulation: The overall number of participants analyzed (14 and 26) differs from the total enrollment reported in the participant flow (26 and 27) because of the staggered enrollment, subset of SMA subjects, and significant mortality. Therefore not all infants enrolled were included in all longitudinal analyses.
Describe and compare the distribution of motor function assessments over the first two years of life in SMA subjects with SMN copy number = 2 versus healthy control infants
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=26 Participants
Healthy control infants
|
|---|---|---|
|
Putative Physiological Biomarkers-Weight SMN Copy Number =2 Cohort
6 month
|
6.63 kg
Interval 6.14 to 7.13
|
7.83 kg
Interval 7.43 to 8.23
|
|
Putative Physiological Biomarkers-Weight SMN Copy Number =2 Cohort
9 month
|
7.70 kg
Interval 7.0 to 8.39
|
8.93 kg
Interval 8.5 to 9.36
|
|
Putative Physiological Biomarkers-Weight SMN Copy Number =2 Cohort
12 month
|
8.51 kg
Interval 7.7 to 9.32
|
9.88 kg
Interval 9.4 to 10.37
|
|
Putative Physiological Biomarkers-Weight SMN Copy Number =2 Cohort
18 month
|
9.65 kg
Interval 8.47 to 10.84
|
11.40 kg
Interval 10.93 to 11.87
|
|
Putative Physiological Biomarkers-Weight SMN Copy Number =2 Cohort
24 month
|
9.77 kg
Interval 8.57 to 10.98
|
12.72 kg
Interval 12.23 to 13.22
|
SECONDARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants with SMA analyzed (14/14) differs from the total enrollment reported in the participant flow (26) because of the staggered enrollment, subset of subjects with SMA and significant mortality.
Examine the correlation between each of the putative physiological and molecular biomarkers with the TIMPSI and CHOP-INTEND over the first two years of life in SMA (SMN = 2). All estimated correlations are the same at each study visit.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=14 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of CMAP Biomarker With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort
|
5.10 mV/scores on a scale
Interval 0.095 to 10.11
|
3.71 mV/scores on a scale
Interval -0.21 to 7.62
|
SECONDARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants with SMA analyzed (14 and 14) differs from the total enrollment reported in the participant flow (26) because of the staggered enrollment, subset of subjects with SMA and significant mortality.
Examine the correlation between each of the putative physiological and molecular biomarkers with the TIMPSI and CHOP-INTEND over the first two years of life in SMA (SMN = 2). All estimated correlations are the same at each study visit.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=14 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of mRNA Biomarkers With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort
|
-6.39 (SMN/HPRT)/scores on a scale
Interval -28.59 to 15.8
|
0.097 (SMN/HPRT)/scores on a scale
Interval -16.08 to 16.27
|
SECONDARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants with SMA analyzed (10/10) differs from the total enrollment reported in the participant flow (26) because of the staggered enrollment, insufficient sample, subset of subjects with SMA and significant mortality.
Examine the correlation between each of the putative physiological and molecular biomarkers with the TIMPSI and CHOP-INTEND over the first two years of life in SMA (SMN = 2). All estimated correlations are the same at each study visit.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=10 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=10 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Protein Level Biomarkers With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort
|
0.000063 (pg/10^7 PBMC0/scores on a scale
Interval -0.0012 to 0.0013
|
0.00048 (pg/10^7 PBMC0/scores on a scale
Interval -0.00077 to 0.0017
|
SECONDARY outcome
Timeframe: up to 24 monthsPopulation: The overall number of participants with SMA analyzed (14/14) differs from the total enrollment reported in the participant flow (26) because of the staggered enrollment, subset of subjects with SMA and significant mortality.
Examine the correlation between each of the putative physiological and molecular biomarkers with the TIMPSI and CHOP-INTEND over the first two years of life in SMA (SMN = 2). All estimated correlations are the same at each study visit.
Outcome measures
| Measure |
Infants With Spinal Muscular Atrophy
n=14 Participants
Infants diagnosed Spinal Muscular Atrophy
|
Healthy Controls
n=14 Participants
Healthy control infants
|
|---|---|---|
|
Correlation of Biomarkers (Weight) With Motor Function Tests for SMA Subjects SMN Copy Number =2 Cohort
|
-2.50 kg/scores on a scale
Interval -4.78 to -0.23
|
-2.43 kg/scores on a scale
Interval -4.19 to -0.67
|
Adverse Events
Infants With Spinal Muscular Atrophy
Healthy Controls
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Dr. Stephen Kolb
The Ohio State Unviersity Wexner Medical Center
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place