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Table 5 FMR1 mRNA Levels and Changes from Baseline by Collection Type and Visit

From: The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study

 

Reported Value

Change from Baseline Valuea

Collection Type

Visit

n

Mean

SD

Median

Min

Max

n

Mean

SD

Median

Min

Max

FXS Participant (N=9)

Buccal Swab

Visit 1

8

0.354

0.3782

0.363

0.000

1.064

      
 

Visit 2

7

0.443

0.5438

0.235

0.000

1.471

5

0.138

0.7450

0.056

-0.840

1.108

Hair Follicle

Visit 1

8

0.055

0.0952

0.030

0.000

0.288

      
 

Visit 2

9

0.127

0.1055

0.078

0.000

0.228

8

0.082

0.1665

0.111

-0.247

0.271

Blood

Visit 1

7

1.026

0.0750

0.984

0.965

1.148

      
 

Visit 2

3

0.905

0.1476

0.830

0.811

1.075

      

Healthy Participant (N=5)

Buccal Swab

Visit 1

5

1.108

0.8453

0.784

0.523

2.341

      
 

Visit 2

5

0.772

0.3437

0.733

0.394

1.228

4

-0.336

0.8542

-0.004

-1.595

0.258

Hair Follicle

Visit 1

5

0.165

0.1504

0.195

0.000

0.370

      
 

Visit 2

5

0.184

0.1407

0.158

0.077

0.423

5

0.019

0.1874

0.077

-0.212

0.228

Blood

Visit 1

4

1.197

0.0842

1.181

1.124

1.303

      
 

Visit 2

4

1.164

0.0604

1.152

1.108

1.245

1

-0.119

 

-0.119

-0.119

-0.119

  1. Notes: For the hair follicle and buccal swab collection types, the mean FMR1 mRNA Delta Cq value across all samples for each subject is summarized
  2. For the blood collection type, two Relative FMR1 values were reported for Subjects 101-002, 101-005, and 101-007; only the smallest value for each subject is summarized
  3. Abbreviations: Max maximum, Min minimum, n number of subjects, SD standard deviation
  4. aBaseline is defined as value collected during Visit 1. Change from baseline values are calculated as the assessment value minus the baseline value