Introduction
Methods
Clinical trial
Ethics
Population
Genotype definition of children enrolled into the clinical trial
Intervention
Trial design and data collection
In vitro study
Ex-vivo epithelial cell collection by nasal brushing
Epithelial cell culture
Effect of butyrate on epithelial cells
Statistical analysis
Results
Clinical trial
Patient | Age at diagnosis | Age the enrollment | Sex | Ethnic origin | Body weight (kg) | SLC26A3 genotype | Type of mutation |
---|---|---|---|---|---|---|---|
1 | 6.5 y | 16 y | M | Caucasian | 70 | c.1484A > C* | Missense |
c.1640C > A* | |||||||
2 | 4 m | 3 y | M | Caucasian | 22 | c.386C > T | Missense |
c.386C > T | |||||||
3 | 6 y | 12 y | M | Caucasian | 32 | c.1008-151_2061 + 1546del* | Deletion |
c.1008-151_2061 + 1546del* | |||||||
4 | 3 m | 18 y | F | Caucasian | 58 | c.2132 T > G | Nonsense |
c.2132 T > G | |||||||
5 | 1 m | 18 y | M | African | 55 | c.559G > T | Nonsense |
c.559G > T | |||||||
6 | 1 m | 15 y | M | African | 57 | c.559G > T | Nonsense |
c.559G > T | |||||||
7 | 10 m | 1.5 y | M | Caucasian | 10 | c.1408-G > C* | Splicing |
c.1408-G > C* |
Patient | Bowel movements | Stool volume (ml) | Stool consistency (score) | ||||||
---|---|---|---|---|---|---|---|---|---|
Basal | On Butyrate |
p
| Basal | On Butyrate |
p
| Basal | On Butyrate |
p
| |
1 | 4 (3) | 2 (1) | 0.003 | 2100 (500) | 1600 (450) | 0.047 | 3 (2) | 2 (1) | 0.379 |
(3–6) | (2–3) | (1800–2300) | (1400–1850) | (1–3) | (2–2) | ||||
2 | 4 (2) | 3 (1) | 0.147 | 1400 (450) | 1200 (300) | 0.046 | 3 (0) | 2 (1) | 0.023 |
(3–5) | (3–4) | (1200–1650) | (1000–1300) | (3–3) | (2–3) | ||||
3 | 3 (2) | 2 (0) | 0.021 | 1500 (200) | 900 (400) | 0.015 | 3 (0) | 2 (1) | 0.107 |
(2–4) | (2–2) | (1400–1600) | (800–1200) | (3–3) | (2–3) | ||||
4 | 6 (2) | 6 (1) | 0.892 | 2000 (400) | 1500 (200) | 0.053 | 3 (0) | 2 (1) | 0.037 |
(5–7) | (6–7) | (1800–2200) | (1500–1700) | (3–3) | (2–3) | ||||
5 | 2 (2–3) | 2 (1) | 0.263 | 1200 (200) | 1100 (300) | 0.261 | 2 (1) | 3 (1) | 0.606 |
(2–3) | (1–2) | (1100–1300) | (900–1200) | (2–3) | (2–3) | ||||
6 | 2 (2) | 1 (0) | 0.238 | 900 (200) | 800 (400) | 0.435 | 2 (1) | 2 (1) | 0.872 |
(0–2) | (1–1) | (800–1000) | (700–1100) | (1–2) | (1–2) | ||||
7 | 3 (1) | 4 (1) | 0.299 | 1000 (200) | 900 (200) | 0.289 | 2 (1) | 2 (0) | 0.254 |
(3–4) | (3–4) | (900–1100) | (800–1000) | (1–2) | (2–2) |
Genotype | Response to butyrate | |||
---|---|---|---|---|
Patient | SLC26A3 genotype | Type of mutation | Fecal Cl-loss | Stool Pattern* |
1 | c.1484A > C* | Missense | Reduced | Improved |
c.1640C > A* | ||||
2 | c.386C > T | Missense | Reduced | Improved |
c.386C > T | ||||
3 | c.1008-151_2061 + 1546del* | Deletion | Reduced | Improved |
c.1008-151_2061 + 1546del* | ||||
4 | c.2132 T > G | Nonsense | Unchanged | Unchanged |
c.2132 T > G | ||||
5 | c.559G > T | Nonsense | Unchanged | Unchanged |
c.559G > T | ||||
6 | c.559G > T | Nonsense | Unchanged | Unchanged |
c.559G > T | ||||
7 | c.1408-G > C* | Splicing | Unchanged | Unchanged |
c.1408-G > C* |