Table 3.
Clinical characteristics at enrollment, by predominant phenotype: symptomatic patients (N = 240)
| Cardiac phenotypea (N = 33) | Neurologic phenotypeb (N = 121) | Mixed phenotypec (N = 86) | |
|---|---|---|---|
| Derived NIS-LL score | |||
| n | 16 | 53 | 51 |
| Mean (SD) | 8.0 (14.1) | 10.6 (20.2) | 7.0 (12.3) |
| Median (10th percentile, 90th percentile) | 2.5 (0.0, 39.0) | 0.0 (0.0, 53.0) | 0.0 (0.0, 20.0) |
| Reflex score | |||
| n | 19 | 84 | 69 |
| Mean (SD) | 1.3 (2.7) | 1.7 (3.1) | 0.8 (2.3) |
| Median (10th percentile, 90th percentile) | 0.0 (0.0, 7.0) | 0.0 (0.0, 8.0) | 0.0 (0.0, 2.0) |
| Motor score | |||
| n | 20 | 65 | 63 |
| Mean (SD) | 1.9 (5.5) | 5.8 (14.6) | 0.9 (3.7) |
| Median (10th percentile, 90th percentile) | 0.0 (0.0, 9.0) | 0.0 (0.0, 26.0) | 0.0 (0.0, 2.0) |
| Sensory score | |||
| n | 14 | 66 | 55 |
| Mean (SD) | 5.7 (10.4) | 7.7 (17.9) | 6.6 (14.7) |
| Median (10th percentile, 90th percentile) | 0.0 (0.0, 26.0) | 0.0 (0.0, 28.0) | 0.0 (0.0, 32.0) |
| KPS score, % | |||
| n | 27 | 67 | 62 |
| Mean (SD) | 81.5 (12.9) | 86.9 (13.8) | 77.9 (17.1) |
| Median (10th percentile, 90th percentile) | 80.0 (60.0, 100.0) | 90.0 (70.0, 100.0) | 80.0 (50.0, 100.0) |
| LV septum, mm | |||
| n | 16 | 49 | 70 |
| Mean (SD) | 17.1 (3.0) | 13.2 (4.1) | 15.5 (4.7) |
| Median (10th percentile, 90th percentile) | 17.5 (12.0, 21.0) | 12.0 (8.0, 19.0) | 16.0 (10.0, 21.5) |
| LV ejection fraction, % | |||
| n | 15 | 48 | 68 |
| Mean (SD) | 55.3 (11.5) | 60.9 (7.2) | 55.9 (12.1) |
| Median (10th percentile, 90th percentile) | 60.0 (36.0, 65.0) | 60.0 (54.0, 70.0) | 57.0 (38.0, 69.0) |
| EQ-5D health state | |||
| n | 20 | 43 | 68 |
| Mean (SD) | 71.4 (18.1) | 72.7 (15.6) | 67.5 (19.1) |
| Median (10th percentile, 90th percentile) | 70.0 (45.0, 99.0) | 80.0 (50.0, 90.0) | 70.0 (40.0, 90.0) |
| EQ-5D index, derived value | |||
| n | 20 | 43 | 68 |
| Mean (SD) | 0.8 (0.2) | 0.8 (0.2) | 0.8 (0.2) |
| Median (10th percentile, 90th percentile) | 0.8 (0.6, 1.0) | 0.8 (0.5, 1.0) | 0.8 (0.4, 1.0) |
| Norfolk QoL-DN: total quality of life score | |||
| n | 19 | 48 | 59 |
| Mean (SD) | 26.6 (25.5) | 24.2 (26.8) | 31.5 (33.1) |
| Median (10th percentile, 90th percentile) | 31.0 (–1.0, 58.0) | 13.5 (0.0, 67.0) | 20.0 (0.0, 89.0) |
Data cutoff: January 6, 2020
Patients were grouped into a predominant clinical phenotype based on clinical presentation at enrollment
ECG electrocardiogram, EQ-5D EuroQol quality-of-life questionnaire, GI gastrointestinal, KPS Karnofsky Performance Status, LV left ventricular, NIS-LL Neuropathy Impairment Score in the Lower Limbs, Norfolk QoL-DN Norfolk Quality of Life-Diabetic Neuropathy questionnaire, SD standard deviation
aPatients with the cardiac phenotype are those (1) with abnormal ECG due to rhythm disturbance, heart failure, or dyspnea, and (2) who do not have more than mild neurologic or GI symptoms (excluding erectile dysfunction, constipation, and carpal tunnel syndrome)
bPatients with the neurologic phenotype are those (1) with walking disability of any severity, other neurologic symptoms of any severity, or GI symptoms (early satiety, nausea, vomiting, unintentional weight loss, diarrhea, constipation, or fecal incontinence) of any severity, and (2) who do not have abnormal ECG due to rhythm disturbance, heart failure, or dyspnea
cPatients with the mixed phenotype are all remaining symptomatic patients who do not meet the criteria for either cardiac or neurologic phenotype