Table 1.
Subject Characteristics
| Subject | Treatment Group | Age (years) | Gender | Weight (kg) | BMI (kg/m2) | GNE Mutation Allele 1 / Allele 2 | GNE Domain1 |
|---|---|---|---|---|---|---|---|
| PH100001 | ManNAc 3 g | 54 | Male | 83.7 | 30 | c.1225G>T (p.Asp409Tyr)/c.1909+5G>A (splice) | ep/kin |
| PH100002 | ManNAc 3 g | 47 | Female | 71.2 | 26.3 | c.2228T>C (p.Met743Thr)/c.2228T>C (p.Met743Thr) | kin/kin |
| PH100004 | ManNAc 3 g | 30 | Female | 69.8 | 25.5 | c.740T>C (p.Val247Ala)/c.1985C>T (p.Ala662Val) | ep/kin |
| PH100006 | ManNAc 3 g | 32 | Male | 83.7 | 24.5 | c.1225G>T (p.Asp409Tyr)/c.1985C>T (p.Ala662Val) | ep/kin |
| PH1000082 | ManNAc 3 g | 51 | Female | 97.3 | 32.5 | c.1225G>T (p.Asp409Tyr)/c.2036C>T (p.Ala679Val) | ep/kin |
| PH100009 | ManNAc 6 g | 44 | Female | 76.7 | 25.6 | c.1225G>T (p.Asp409Tyr)/c.2036C>T (p.Ala679Val) | ep/kin |
| PH100010 | ManNAc 6 g | 52 | Male | 95.0 | 28.1 | c.731A>T (p.Asp244Val)/c.2179G>A (p.Val727Met) | ep/kin |
| PH100016 | ManNAc 6 g | 32 | Male | 113.8 | 29.4 | c.1225G>T (p.Asp409Tyr)/c.2036C>T (p.Ala679Val) | ep/kin |
| PH100017 | ManNAc 6 g | 37 | Male | 94.0 | 27.2 | c.497G>T (p.Gly166Val)/c.829C>T (p.Arg277Trp) | ep/ep |
| PH100018 | ManNAc 6 g | 65 | Male | 114.9 | 39.8 | c.2228T>C (p.Met743Thr)/c.2228T>C (p.Met743Thr) | kin/kin |
| PH100019 | ManNAc 10 g | 50 | Female | 69.5 | 26 | c.983T>C (p.Met328Thr)/c.2179G>A (p.Val727Met) | ep/kin |
| PH100020 | ManNAc 10 g | 32 | Male | 86.8 | 27.4 | c.559T>C (p.Tyr187His)/c.2179G>A (p.Val727Met) | ep/kin |
| PH100022 | ManNAc 10 g | 35 | Female | 59.3 | 23.5 | c.1985C>T (p.Ala662Val)/c.1985C>T (p.Ala662Val) | kin/kin |
| PH100023 | ManNAc 10 g | 39 | Female | 53.6 | 21.6 | c.478C>T (p.Arg160*)/c.2179G>A (p.Val727Met) | ep/kin |
| PH100025 | ManNAc 10 g | 49 | Male | 111.9 | 29.3 | c.1225G>T (p.Asp409Tyr)/c.2036C>T (p.Ala679Val) | ep/kin |
| PH1000262 | ManNAc 10 g | 51 | Female | 95.6 | 31.2 | c.1225G>T (p.Asp409Tyr)/c.2036C>T (p.Ala679Val) | ep/kin |
| PH100003 | Placebo | 53 | Female | 55.4 | 21.1 | c.986T>C (p.Ile329Thr)/c.2179G>A (p.Val727Met) | ep/kin |
| PH100007 | Placebo | 49 | Male | 111.8 | 28.9 | c.1225G>T (p.Asp409Tyr)/c.2036C>T (p.Ala679Val) | ep/kin |
| PH100014 | Placebo | 47 | Male | 109.0 | 31.5 | c.1225G>T (p.Asp409Tyr)/c.2036C>T (p.Ala679Val) | ep/kin |
| PH1000152 | Placebo | 36 | Female | 96.3 | 36.7 | c.2228T>C (p.Met743Thr)/c.2228T>C (p.Met743Thr) | kin/kin |
| PH100021 | Placebo | 30 | Female | 49.3 | 21.6 | c.1618C>T (p.His540Tyr)/c.1769G>C (p.Gly590Ala) | kin/kin |
| PH1000242 | Placebo | 36 | Female | 95.3 | 36.8 | c.2228T>C (p.Met743Thr)/c.2228T>C (p.Met743Thr) | kin/kin |
1
ep = UDP-GlcNAc 2-epimerase enzymatic domain; kin = ManNAc kinase enzymatic domain.
2
PH100008 (PH100026) and PH100015 (PH100024) participated in two dosing cohorts with more than 8 weeks washout time in between their two single doses.